Canonical Allele Identifier: CA264685595

Gene: GALC

Linked Data

• dbSNP Id: rs1017268936
• gnomAD v2: 14-88414098-C-T
• gnomAD v3: 14-87947754-C-T
• gnomAD v4: 14-87947754-C-T
• MyVariant Identifiers: chr14:g.88414098C>T (hg19) ; chr14:g.87947754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947754C>T , CM000676.2:g.87947754C>T	GRCh38
NC_000014.8:g.88414098C>T , CM000676.1:g.88414098C>T	GRCh37
NC_000014.7:g.87483851C>T	NCBI36
NG_011853.2:g.50810G>A
NG_011853.3:g.50810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1463G>A MANE Select	ENSP00000261304.2:p.Ser488Asn
ENST00000261304.6:c.1463G>A	ENSP00000261304.2:p.Ser488Asn
ENST00000393568.8:c.1394G>A	ENSP00000377198.4:p.Ser465Asn
ENST00000393569.6:c.1385G>A	ENSP00000377199.2:p.Ser462Asn
ENST00000544807.6:c.1295G>A	ENSP00000437513.2:p.Ser432Asn
ENST00000555000.5:c.830G>A	ENSP00000450472.1:p.Ser277Asn
ENST00000555179.1:c.180G>A
ENST00000557316.5:c.*861G>A	ENSP00000452314.1:n.*861G>A
NM_000153.3:c.1463G>A	NP_000144.2:p.Ser488Asn
NM_001201401.1:c.1394G>A	NP_001188330.1:p.Ser465Asn
NM_001201402.1:c.1385G>A	NP_001188331.1:p.Ser462Asn
XM_011536618.1:c.1295G>A	XP_011534920.1:p.Ser432Asn
XM_011536618.2:c.1295G>A	XP_011534920.1:p.Ser432Asn
NM_000153.4:c.1463G>A MANE Select	NP_000144.2:p.Ser488Asn
NM_001201401.2:c.1394G>A	NP_001188330.1:p.Ser465Asn
NM_001201402.2:c.1385G>A	NP_001188331.1:p.Ser462Asn