Canonical Allele Identifier: CA371549635

Gene: GDAP1

Linked Data

• gnomAD v4: 8-74363021-C-A
• MyVariant Identifiers: chr8:g.75275256C>A (hg19) ; chr8:g.74363021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363021C>A , CM000670.2:g.74363021C>A	GRCh38
NC_000008.10:g.75275256C>A , CM000670.1:g.75275256C>A	GRCh37
NC_000008.9:g.75437811C>A	NCBI36
NG_008787.2:g.46892C>A
NG_008787.3:g.46892C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.662C>A MANE Select	ENSP00000220822.7:p.Thr221Asn
ENST00000434412.3:c.530C>A	ENSP00000417006.3:p.Thr177Asn
ENST00000520797.6:n.773C>A
ENST00000521096.6:n.518C>A
ENST00000522568.2:c.*334C>A	ENSP00000430136.1:n.*334C>A
ENST00000523640.2:c.165+11700C>A	ENSP00000502017.1:n.165+11700C>A
ENST00000524195.2:c.248C>A	ENSP00000502308.1:p.Thr83Asn
ENST00000674612.1:c.335C>A	ENSP00000501864.1:p.Thr112Asn
ENST00000674710.1:c.662C>A	ENSP00000502762.1:p.Thr221Asn
ENST00000674754.1:c.*1294C>A	ENSP00000502063.1:n.*1294C>A
ENST00000674756.1:c.*334C>A	ENSP00000501860.1:n.*334C>A
ENST00000674806.1:c.335C>A	ENSP00000502637.1:p.Thr112Asn
ENST00000674865.1:c.458C>A	ENSP00000502437.1:p.Thr153Asn
ENST00000674926.1:c.*1294C>A	ENSP00000501799.1:n.*1294C>A
ENST00000674934.1:c.*350C>A	ENSP00000502187.1:n.*350C>A
ENST00000674944.1:c.*334C>A	ENSP00000501858.1:n.*334C>A
ENST00000674946.1:c.662C>A	ENSP00000501569.1:p.Thr221Asn
ENST00000674973.1:c.356C>A	ENSP00000502447.1:p.Thr119Asn
ENST00000675007.1:c.*334C>A	ENSP00000502119.1:n.*334C>A
ENST00000675060.1:c.*327C>A	ENSP00000501616.1:n.*327C>A
ENST00000675165.1:c.662C>A	ENSP00000502612.1:p.Thr221Asn
ENST00000675220.1:c.335C>A	ENSP00000502588.1:p.Thr112Asn
ENST00000675265.1:c.*334C>A	ENSP00000501848.1:n.*334C>A
ENST00000675336.1:c.*148C>A	ENSP00000502120.1:n.*148C>A
ENST00000675376.1:c.335C>A	ENSP00000502838.1:p.Thr112Asn
ENST00000675463.1:c.662C>A	ENSP00000502327.1:p.Thr221Asn
ENST00000675472.1:c.*148C>A	ENSP00000501946.1:n.*148C>A
ENST00000675474.1:n.181C>A
ENST00000675560.1:c.*334C>A	ENSP00000502118.1:n.*334C>A
ENST00000675625.1:c.*334C>A	ENSP00000501626.1:n.*334C>A
ENST00000675633.1:c.*69C>A	ENSP00000501785.1:n.*69C>A
ENST00000675661.1:c.*422C>A	ENSP00000501958.1:n.*422C>A
ENST00000675706.1:n.1689C>A
ENST00000675821.1:c.335C>A	ENSP00000502198.1:p.Thr112Asn
ENST00000675832.1:c.*334C>A	ENSP00000502041.1:n.*334C>A
ENST00000675928.1:c.488C>A	ENSP00000501568.1:p.Thr163Asn
ENST00000675944.1:c.458C>A	ENSP00000502673.1:p.Thr153Asn
ENST00000675999.1:c.662C>A	ENSP00000502572.1:p.Thr221Asn
ENST00000676049.1:c.*564C>A	ENSP00000501912.1:n.*564C>A
ENST00000676112.1:c.662C>A	ENSP00000502295.1:p.Thr221Asn
ENST00000676143.1:c.335C>A	ENSP00000502828.1:p.Thr112Asn
ENST00000676207.1:c.662C>A	ENSP00000502638.1:p.Thr221Asn
ENST00000676377.1:c.335C>A	ENSP00000502756.1:p.Thr112Asn
ENST00000676415.1:c.662C>A	ENSP00000502665.1:p.Thr221Asn
ENST00000676443.1:c.614C>A	ENSP00000501769.1:p.Thr205Asn
ENST00000220822.11:c.662C>A	ENSP00000220822.7:p.Thr221Asn
ENST00000434412.2:c.458C>A	ENSP00000417006.2:p.Thr153Asn
ENST00000520797.5:n.427C>A
ENST00000521096.5:n.468C>A
ENST00000522568.1:c.*334C>A	ENSP00000430136.1:n.*334C>A
ENST00000524195.1:n.71C>A
ENST00000524366.5:n.506C>A
NM_001040875.2:c.458C>A	NP_001035808.1:p.Thr153Asn
NM_018972.2:c.662C>A	NP_061845.2:p.Thr221Asn
NR_046346.1:n.596C>A
XM_011517551.1:c.956C>A	XP_011515853.1:p.Thr319Asn
XM_011517552.1:c.335C>A	XP_011515854.1:p.Thr112Asn
NM_001040875.3:c.458C>A	NP_001035808.1:p.Thr153Asn
NM_001362929.1:c.335C>A	NP_001349858.1:p.Thr112Asn
NM_001362930.1:c.488C>A	NP_001349859.1:p.Thr163Asn
NM_001362931.1:c.662C>A	NP_001349860.1:p.Thr221Asn
NM_001362932.1:c.335C>A	NP_001349861.1:p.Thr112Asn
NM_018972.3:c.662C>A	NP_061845.2:p.Thr221Asn
NM_001362931.2:c.662C>A	NP_001349860.1:p.Thr221Asn
NM_018972.4:c.662C>A MANE Select	NP_061845.2:p.Thr221Asn
NM_001040875.4:c.458C>A	NP_001035808.1:p.Thr153Asn
NM_001362929.2:c.335C>A	NP_001349858.1:p.Thr112Asn
NM_001362930.2:c.488C>A	NP_001349859.1:p.Thr163Asn
NM_001362932.2:c.335C>A	NP_001349861.1:p.Thr112Asn