Canonical Allele Identifier: CA390749717

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442811A>T (hg19) ; chr14:g.87976467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976467A>T , CM000676.2:g.87976467A>T	GRCh38
NC_000014.8:g.88442811A>T , CM000676.1:g.88442811A>T	GRCh37
NC_000014.7:g.87512564A>T	NCBI36
NG_011853.2:g.22097T>A
NG_011853.3:g.22097T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.643T>A MANE Select	ENSP00000261304.2:p.Tyr215Asn
ENST00000261304.6:c.643T>A	ENSP00000261304.2:p.Tyr215Asn
ENST00000393568.8:c.574T>A	ENSP00000377198.4:p.Tyr192Asn
ENST00000393569.6:c.565T>A	ENSP00000377199.2:p.Tyr189Asn
ENST00000474294.6:n.633T>A
ENST00000477716.3:n.398T>A
ENST00000544807.6:c.475T>A	ENSP00000437513.2:p.Tyr159Asn
ENST00000554916.5:n.522T>A
ENST00000555000.5:c.10T>A	ENSP00000450472.1:p.Tyr4Asn
ENST00000557316.5:c.*41T>A	ENSP00000452314.1:n.*41T>A
ENST00000622264.4:c.633T>A
NM_000153.3:c.643T>A	NP_000144.2:p.Tyr215Asn
NM_001201401.1:c.574T>A	NP_001188330.1:p.Tyr192Asn
NM_001201402.1:c.565T>A	NP_001188331.1:p.Tyr189Asn
XM_011536618.1:c.475T>A	XP_011534920.1:p.Tyr159Asn
XM_011536618.2:c.475T>A	XP_011534920.1:p.Tyr159Asn
NM_000153.4:c.643T>A MANE Select	NP_000144.2:p.Tyr215Asn
NM_001201401.2:c.574T>A	NP_001188330.1:p.Tyr192Asn
NM_001201402.2:c.565T>A	NP_001188331.1:p.Tyr189Asn