Canonical Allele Identifier: CA615276339

Gene: GALC

Linked Data

• dbSNP Id: rs1418239211
• gnomAD v2: 14-88442855-A-G
• gnomAD v4: 14-87976511-A-G
• MyVariant Identifiers: chr14:g.88442855A>G (hg19) ; chr14:g.87976511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976511A>G , CM000676.2:g.87976511A>G	GRCh38
NC_000014.8:g.88442855A>G , CM000676.1:g.88442855A>G	GRCh37
NC_000014.7:g.87512608A>G	NCBI36
NG_011853.2:g.22053T>C
NG_011853.3:g.22053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-23T>C MANE Select	ENSP00000261304.2:n.622-23T>C
ENST00000261304.6:c.622-23T>C	ENSP00000261304.2:n.622-23T>C
ENST00000393568.8:c.553-23T>C	ENSP00000377198.4:n.553-23T>C
ENST00000393569.6:c.544-23T>C	ENSP00000377199.2:n.544-23T>C
ENST00000474294.6:n.612-23T>C
ENST00000477716.3:n.354T>C
ENST00000544807.6:c.454-23T>C	ENSP00000437513.2:n.454-23T>C
ENST00000554916.5:n.501-23T>C
ENST00000555000.5:c.-12-23T>C	ENSP00000450472.1:n.-12-23T>C
ENST00000557316.5:c.*20-23T>C	ENSP00000452314.1:n.*20-23T>C
ENST00000622264.4:c.612-23T>C
NM_000153.3:c.622-23T>C	NP_000144.2:n.622-23T>C
NM_001201401.1:c.553-23T>C	NP_001188330.1:n.553-23T>C
NM_001201402.1:c.544-23T>C	NP_001188331.1:n.544-23T>C
XM_011536618.1:c.454-23T>C	XP_011534920.1:n.454-23T>C
XM_011536618.2:c.454-23T>C	XP_011534920.1:n.454-23T>C
NM_000153.4:c.622-23T>C MANE Select	NP_000144.2:n.622-23T>C
NM_001201401.2:c.553-23T>C	NP_001188330.1:n.553-23T>C
NM_001201402.2:c.544-23T>C	NP_001188331.1:n.544-23T>C