Canonical Allele Identifier: CA615276291

Gene: GALC

Linked Data

• dbSNP Id: rs759832936
• gnomAD v2: 14-88442662-A-C
• gnomAD v4: 14-87976318-A-C
• MyVariant Identifiers: chr14:g.88442662A>C (hg19) ; chr14:g.87976318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976318A>C , CM000676.2:g.87976318A>C	GRCh38
NC_000014.8:g.88442662A>C , CM000676.1:g.88442662A>C	GRCh37
NC_000014.7:g.87512415A>C	NCBI36
NG_011853.2:g.22246T>G
NG_011853.3:g.22246T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+40T>G MANE Select	ENSP00000261304.2:n.752+40T>G
ENST00000261304.6:c.752+40T>G	ENSP00000261304.2:n.752+40T>G
ENST00000393568.8:c.683+40T>G	ENSP00000377198.4:n.683+40T>G
ENST00000393569.6:c.674+40T>G	ENSP00000377199.2:n.674+40T>G
ENST00000474294.6:n.742+40T>G
ENST00000477716.3:n.507+40T>G
ENST00000544807.6:c.584+40T>G	ENSP00000437513.2:n.584+40T>G
ENST00000555000.5:c.119+40T>G	ENSP00000450472.1:n.119+40T>G
ENST00000557316.5:c.*150+40T>G	ENSP00000452314.1:n.*150+40T>G
ENST00000622264.4:c.742+40T>G
NM_000153.3:c.752+40T>G	NP_000144.2:n.752+40T>G
NM_001201401.1:c.683+40T>G	NP_001188330.1:n.683+40T>G
NM_001201402.1:c.674+40T>G	NP_001188331.1:n.674+40T>G
XM_011536618.1:c.584+40T>G	XP_011534920.1:n.584+40T>G
XM_011536618.2:c.584+40T>G	XP_011534920.1:n.584+40T>G
NM_000153.4:c.752+40T>G MANE Select	NP_000144.2:n.752+40T>G
NM_001201401.2:c.683+40T>G	NP_001188330.1:n.683+40T>G
NM_001201402.2:c.674+40T>G	NP_001188331.1:n.674+40T>G