Canonical Allele Identifier: CA7297026

Gene: GALC

Linked Data

• ClinVar Variation Id: 2890980
• ClinVar RCV Id: RCV003610825
• dbSNP Id: rs375620970
• ExAC: 14:88414187 C / A
• gnomAD v2: 14-88414187-C-A
• gnomAD v4: 14-87947843-C-A
• MyVariant Identifiers: chr14:g.88414187C>A (hg19) ; chr14:g.87947843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947843C>A , CM000676.2:g.87947843C>A	GRCh38
NC_000014.8:g.88414187C>A , CM000676.1:g.88414187C>A	GRCh37
NC_000014.7:g.87483940C>A	NCBI36
NG_011853.2:g.50721G>T
NG_011853.3:g.50721G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1374G>T MANE Select	ENSP00000261304.2:p.Leu458=
ENST00000261304.6:c.1374G>T	ENSP00000261304.2:p.Leu458=
ENST00000393568.8:c.1305G>T	ENSP00000377198.4:p.Leu435=
ENST00000393569.6:c.1296G>T	ENSP00000377199.2:p.Leu432=
ENST00000544807.6:c.1206G>T	ENSP00000437513.2:p.Leu402=
ENST00000555000.5:c.741G>T	ENSP00000450472.1:p.Leu247=
ENST00000555179.1:c.91G>T
ENST00000557316.5:c.*772G>T	ENSP00000452314.1:n.*772G>T
NM_000153.3:c.1374G>T	NP_000144.2:p.Leu458=
NM_001201401.1:c.1305G>T	NP_001188330.1:p.Leu435=
NM_001201402.1:c.1296G>T	NP_001188331.1:p.Leu432=
XM_011536618.1:c.1206G>T	XP_011534920.1:p.Leu402=
XM_011536618.2:c.1206G>T	XP_011534920.1:p.Leu402=
NM_000153.4:c.1374G>T MANE Select	NP_000144.2:p.Leu458=
NM_001201401.2:c.1305G>T	NP_001188330.1:p.Leu435=
NM_001201402.2:c.1296G>T	NP_001188331.1:p.Leu432=