Canonical Allele Identifier: CA390749393

Gene: GALC

Linked Data

• ClinVar Variation Id: 1335157
• ClinVar RCV Id: RCV001815765
• dbSNP Id: rs2140016138
• MyVariant Identifiers: chr14:g.88442736C>T (hg19) ; chr14:g.87976392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976392C>T , CM000676.2:g.87976392C>T	GRCh38
NC_000014.8:g.88442736C>T , CM000676.1:g.88442736C>T	GRCh37
NC_000014.7:g.87512489C>T	NCBI36
NG_011853.2:g.22172G>A
NG_011853.3:g.22172G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.718G>A MANE Select	ENSP00000261304.2:p.Asp240Asn
ENST00000261304.6:c.718G>A	ENSP00000261304.2:p.Asp240Asn
ENST00000393568.8:c.649G>A	ENSP00000377198.4:p.Asp217Asn
ENST00000393569.6:c.640G>A	ENSP00000377199.2:p.Asp214Asn
ENST00000474294.6:n.708G>A
ENST00000477716.3:n.473G>A
ENST00000544807.6:c.550G>A	ENSP00000437513.2:p.Asp184Asn
ENST00000554916.5:n.597G>A
ENST00000555000.5:c.85G>A	ENSP00000450472.1:p.Asp29Asn
ENST00000557316.5:c.*116G>A	ENSP00000452314.1:n.*116G>A
ENST00000622264.4:c.708G>A
NM_000153.3:c.718G>A	NP_000144.2:p.Asp240Asn
NM_001201401.1:c.649G>A	NP_001188330.1:p.Asp217Asn
NM_001201402.1:c.640G>A	NP_001188331.1:p.Asp214Asn
XM_011536618.1:c.550G>A	XP_011534920.1:p.Asp184Asn
XM_011536618.2:c.550G>A	XP_011534920.1:p.Asp184Asn
NM_000153.4:c.718G>A MANE Select	NP_000144.2:p.Asp240Asn
NM_001201401.2:c.649G>A	NP_001188330.1:p.Asp217Asn
NM_001201402.2:c.640G>A	NP_001188331.1:p.Asp214Asn