Canonical Allele Identifier: CA1794116599

Gene: GDAP1

Linked Data

• dbSNP Id: rs1809380305
• gnomAD v4: 8-74361874-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74361874T>C , CM000670.2:g.74361874T>C	GRCh38
NC_000008.10:g.75274109T>C , CM000670.1:g.75274109T>C	GRCh37
NC_000008.9:g.75436664T>C	NCBI36
NG_008787.2:g.45745T>C
NG_008787.3:g.45745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.485-10T>C MANE Select	ENSP00000220822.7:n.485-10T>C
ENST00000434412.3:c.353-10T>C	ENSP00000417006.3:n.353-10T>C
ENST00000520797.6:n.596-10T>C
ENST00000521096.6:n.341-10T>C
ENST00000522568.2:c.*157-10T>C	ENSP00000430136.1:n.*157-10T>C
ENST00000523640.2:c.165+10553T>C	ENSP00000502017.1:n.165+10553T>C
ENST00000524195.2:c.166-1065T>C	ENSP00000502308.1:n.166-1065T>C
ENST00000674612.1:c.158-10T>C	ENSP00000501864.1:n.158-10T>C
ENST00000674710.1:c.485-10T>C	ENSP00000502762.1:n.485-10T>C
ENST00000674754.1:c.*157-10T>C	ENSP00000502063.1:n.*157-10T>C
ENST00000674756.1:c.*157-10T>C	ENSP00000501860.1:n.*157-10T>C
ENST00000674806.1:c.158-10T>C	ENSP00000502637.1:n.158-10T>C
ENST00000674865.1:c.281-10T>C	ENSP00000502437.1:n.281-10T>C
ENST00000674926.1:c.*157-10T>C	ENSP00000501799.1:n.*157-10T>C
ENST00000674934.1:c.*173-10T>C	ENSP00000502187.1:n.*173-10T>C
ENST00000674944.1:c.*157-10T>C	ENSP00000501858.1:n.*157-10T>C
ENST00000674946.1:c.485-10T>C	ENSP00000501569.1:n.485-10T>C
ENST00000674973.1:c.179-10T>C	ENSP00000502447.1:n.179-10T>C
ENST00000675007.1:c.*157-10T>C	ENSP00000502119.1:n.*157-10T>C
ENST00000675060.1:c.*150-10T>C	ENSP00000501616.1:n.*150-10T>C
ENST00000675165.1:c.485-10T>C	ENSP00000502612.1:n.485-10T>C
ENST00000675220.1:c.158-10T>C	ENSP00000502588.1:n.158-10T>C
ENST00000675265.1:c.*157-10T>C	ENSP00000501848.1:n.*157-10T>C
ENST00000675336.1:c.166-10T>C	ENSP00000502120.1:n.166-10T>C
ENST00000675376.1:c.158-10T>C	ENSP00000502838.1:n.158-10T>C
ENST00000675463.1:c.485-10T>C	ENSP00000502327.1:n.485-10T>C
ENST00000675472.1:c.118-10T>C	ENSP00000501946.1:n.118-10T>C
ENST00000675560.1:c.*157-10T>C	ENSP00000502118.1:n.*157-10T>C
ENST00000675565.1:n.302-10T>C
ENST00000675625.1:c.*157-10T>C	ENSP00000501626.1:n.*157-10T>C
ENST00000675633.1:c.485-10T>C	ENSP00000501785.1:n.485-10T>C
ENST00000675661.1:c.*157-10T>C	ENSP00000501958.1:n.*157-10T>C
ENST00000675706.1:n.552-10T>C
ENST00000675821.1:c.158-10T>C	ENSP00000502198.1:n.158-10T>C
ENST00000675832.1:c.*157-10T>C	ENSP00000502041.1:n.*157-10T>C
ENST00000675928.1:c.311-10T>C	ENSP00000501568.1:n.311-10T>C
ENST00000675944.1:c.281-10T>C	ENSP00000502673.1:n.281-10T>C
ENST00000675999.1:c.485-10T>C	ENSP00000502572.1:n.485-10T>C
ENST00000676049.1:c.*387-10T>C	ENSP00000501912.1:n.*387-10T>C
ENST00000676112.1:c.485-10T>C	ENSP00000502295.1:n.485-10T>C
ENST00000676120.1:c.*157-10T>C	ENSP00000502036.1:n.*157-10T>C
ENST00000676143.1:c.158-10T>C	ENSP00000502828.1:n.158-10T>C
ENST00000676207.1:c.485-10T>C	ENSP00000502638.1:n.485-10T>C
ENST00000676377.1:c.158-10T>C	ENSP00000502756.1:n.158-10T>C
ENST00000676415.1:c.485-10T>C	ENSP00000502665.1:n.485-10T>C
ENST00000676443.1:c.437-10T>C	ENSP00000501769.1:n.437-10T>C
ENST00000220822.11:c.485-10T>C	ENSP00000220822.7:n.485-10T>C
ENST00000434412.2:c.281-10T>C	ENSP00000417006.2:n.281-10T>C
ENST00000520797.5:n.250-10T>C
ENST00000521096.5:n.291-10T>C
ENST00000522568.1:c.*157-10T>C	ENSP00000430136.1:n.*157-10T>C
ENST00000524366.5:n.329-10T>C
NM_001040875.2:c.281-10T>C	NP_001035808.1:n.281-10T>C
NM_018972.2:c.485-10T>C	NP_061845.2:n.485-10T>C
NR_046346.1:n.419-10T>C
XM_011517551.1:c.779-10T>C	XP_011515853.1:n.779-10T>C
XM_011517552.1:c.158-10T>C	XP_011515854.1:n.158-10T>C
NM_001040875.3:c.281-10T>C	NP_001035808.1:n.281-10T>C
NM_001362929.1:c.158-10T>C	NP_001349858.1:n.158-10T>C
NM_001362930.1:c.311-10T>C	NP_001349859.1:n.311-10T>C
NM_001362931.1:c.485-10T>C	NP_001349860.1:n.485-10T>C
NM_001362932.1:c.158-10T>C	NP_001349861.1:n.158-10T>C
NM_018972.3:c.485-10T>C	NP_061845.2:n.485-10T>C
XM_017013586.2:c.485-10T>C	XP_016869075.2:n.485-10T>C
NM_001362931.2:c.485-10T>C	NP_001349860.1:n.485-10T>C
NM_018972.4:c.485-10T>C MANE Select	NP_061845.2:n.485-10T>C
NM_001040875.4:c.281-10T>C	NP_001035808.1:n.281-10T>C
NM_001362929.2:c.158-10T>C	NP_001349858.1:n.158-10T>C
NM_001362930.2:c.311-10T>C	NP_001349859.1:n.311-10T>C
NM_001362932.2:c.158-10T>C	NP_001349861.1:n.158-10T>C