Canonical Allele Identifier: CA390749545

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442771T>A (hg19) ; chr14:g.87976427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976427T>A , CM000676.2:g.87976427T>A	GRCh38
NC_000014.8:g.88442771T>A , CM000676.1:g.88442771T>A	GRCh37
NC_000014.7:g.87512524T>A	NCBI36
NG_011853.2:g.22137A>T
NG_011853.3:g.22137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.683A>T MANE Select	ENSP00000261304.2:p.Asn228Ile
ENST00000261304.6:c.683A>T	ENSP00000261304.2:p.Asn228Ile
ENST00000393568.8:c.614A>T	ENSP00000377198.4:p.Asn205Ile
ENST00000393569.6:c.605A>T	ENSP00000377199.2:p.Asn202Ile
ENST00000474294.6:n.673A>T
ENST00000477716.3:n.438A>T
ENST00000544807.6:c.515A>T	ENSP00000437513.2:p.Asn172Ile
ENST00000554916.5:n.562A>T
ENST00000555000.5:c.50A>T	ENSP00000450472.1:p.Asn17Ile
ENST00000557316.5:c.*81A>T	ENSP00000452314.1:n.*81A>T
ENST00000622264.4:c.673A>T
NM_000153.3:c.683A>T	NP_000144.2:p.Asn228Ile
NM_001201401.1:c.614A>T	NP_001188330.1:p.Asn205Ile
NM_001201402.1:c.605A>T	NP_001188331.1:p.Asn202Ile
XM_011536618.1:c.515A>T	XP_011534920.1:p.Asn172Ile
XM_011536618.2:c.515A>T	XP_011534920.1:p.Asn172Ile
NM_000153.4:c.683A>T MANE Select	NP_000144.2:p.Asn228Ile
NM_001201401.2:c.614A>T	NP_001188330.1:p.Asn205Ile
NM_001201402.2:c.605A>T	NP_001188331.1:p.Asn202Ile