Canonical Allele Identifier: CA2687669547

Gene: GDAP1

Linked Data

• gnomAD v4: 8-74363950-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363950T>C , CM000670.2:g.74363950T>C	GRCh38
NC_000008.10:g.75276185T>C , CM000670.1:g.75276185T>C	GRCh37
NC_000008.9:g.75438740T>C	NCBI36
NG_008787.2:g.47821T>C
NG_008787.3:g.47821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.695-35T>C MANE Select	ENSP00000220822.7:n.695-35T>C
ENST00000434412.3:c.563-35T>C	ENSP00000417006.3:n.563-35T>C
ENST00000520797.6:n.806-35T>C
ENST00000521096.6:n.551-35T>C
ENST00000522568.2:c.*367-35T>C	ENSP00000430136.1:n.*367-35T>C
ENST00000523640.2:c.165+12629T>C	ENSP00000502017.1:n.165+12629T>C
ENST00000524195.2:c.280+897T>C	ENSP00000502308.1:n.280+897T>C
ENST00000674612.1:c.368-35T>C	ENSP00000501864.1:n.368-35T>C
ENST00000674710.1:c.694+897T>C	ENSP00000502762.1:n.694+897T>C
ENST00000674754.1:c.*2223T>C	ENSP00000502063.1:n.*2223T>C
ENST00000674756.1:c.*366+897T>C	ENSP00000501860.1:n.*366+897T>C
ENST00000674806.1:c.368-35T>C	ENSP00000502637.1:n.368-35T>C
ENST00000674865.1:c.491-35T>C	ENSP00000502437.1:n.491-35T>C
ENST00000674926.1:c.*1327-35T>C	ENSP00000501799.1:n.*1327-35T>C
ENST00000674934.1:c.*383-35T>C	ENSP00000502187.1:n.*383-35T>C
ENST00000674944.1:c.*1263T>C	ENSP00000501858.1:n.*1263T>C
ENST00000674946.1:c.694+897T>C	ENSP00000501569.1:n.694+897T>C
ENST00000674973.1:c.389-35T>C	ENSP00000502447.1:n.389-35T>C
ENST00000675007.1:c.*433-35T>C	ENSP00000502119.1:n.*433-35T>C
ENST00000675060.1:c.*360-35T>C	ENSP00000501616.1:n.*360-35T>C
ENST00000675165.1:c.695-38T>C	ENSP00000502612.1:n.695-38T>C
ENST00000675220.1:c.368-35T>C	ENSP00000502588.1:n.368-35T>C
ENST00000675265.1:c.*445-35T>C	ENSP00000501848.1:n.*445-35T>C
ENST00000675336.1:c.*181-35T>C	ENSP00000502120.1:n.*181-35T>C
ENST00000675376.1:c.368-35T>C	ENSP00000502838.1:n.368-35T>C
ENST00000675463.1:c.773-35T>C	ENSP00000502327.1:n.773-35T>C
ENST00000675472.1:c.*181-35T>C	ENSP00000501946.1:n.*181-35T>C
ENST00000675474.1:n.280-35T>C
ENST00000675560.1:c.*366+897T>C	ENSP00000502118.1:n.*366+897T>C
ENST00000675625.1:c.*367-35T>C	ENSP00000501626.1:n.*367-35T>C
ENST00000675633.1:c.*102-35T>C	ENSP00000501785.1:n.*102-35T>C
ENST00000675661.1:c.*455-35T>C	ENSP00000501958.1:n.*455-35T>C
ENST00000675706.1:n.2618T>C
ENST00000675821.1:c.368-35T>C	ENSP00000502198.1:n.368-35T>C
ENST00000675832.1:c.*367-35T>C	ENSP00000502041.1:n.*367-35T>C
ENST00000675928.1:c.521-35T>C	ENSP00000501568.1:n.521-35T>C
ENST00000675944.1:c.491-35T>C	ENSP00000502673.1:n.491-35T>C
ENST00000675999.1:c.694+897T>C	ENSP00000502572.1:n.694+897T>C
ENST00000676049.1:c.*597-35T>C	ENSP00000501912.1:n.*597-35T>C
ENST00000676112.1:c.761-35T>C	ENSP00000502295.1:n.761-35T>C
ENST00000676143.1:c.368-35T>C	ENSP00000502828.1:n.368-35T>C
ENST00000676207.1:c.694+897T>C	ENSP00000502638.1:n.694+897T>C
ENST00000676377.1:c.368-35T>C	ENSP00000502756.1:n.368-35T>C
ENST00000676415.1:c.701T>C	ENSP00000502665.1:p.Leu234Ser
ENST00000676443.1:c.647-35T>C	ENSP00000501769.1:n.647-35T>C
ENST00000220822.11:c.695-35T>C	ENSP00000220822.7:n.695-35T>C
ENST00000434412.2:c.491-35T>C	ENSP00000417006.2:n.491-35T>C
ENST00000520797.5:n.460-35T>C
ENST00000521096.5:n.501-35T>C
ENST00000522568.1:c.*367-35T>C	ENSP00000430136.1:n.*367-35T>C
ENST00000524195.1:n.103+897T>C
ENST00000524366.5:n.539-35T>C
NM_001040875.2:c.491-35T>C	NP_001035808.1:n.491-35T>C
NM_018972.2:c.695-35T>C	NP_061845.2:n.695-35T>C
NR_046346.1:n.629-35T>C
XM_011517551.1:c.989-35T>C	XP_011515853.1:n.989-35T>C
XM_011517552.1:c.368-35T>C	XP_011515854.1:n.368-35T>C
NM_001040875.3:c.491-35T>C	NP_001035808.1:n.491-35T>C
NM_001362929.1:c.368-35T>C	NP_001349858.1:n.368-35T>C
NM_001362930.1:c.521-35T>C	NP_001349859.1:n.521-35T>C
NM_001362931.1:c.694+897T>C	NP_001349860.1:n.694+897T>C
NM_001362932.1:c.368-35T>C	NP_001349861.1:n.368-35T>C
NM_018972.3:c.695-35T>C	NP_061845.2:n.695-35T>C
NM_001362931.2:c.694+897T>C	NP_001349860.1:n.694+897T>C
NM_018972.4:c.695-35T>C MANE Select	NP_061845.2:n.695-35T>C
NM_001040875.4:c.491-35T>C	NP_001035808.1:n.491-35T>C
NM_001362929.2:c.368-35T>C	NP_001349858.1:n.368-35T>C
NM_001362930.2:c.521-35T>C	NP_001349859.1:n.521-35T>C
NM_001362932.2:c.368-35T>C	NP_001349861.1:n.368-35T>C