Canonical Allele Identifier: CA487366222

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442719C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976375C>T , CM000676.2:g.87976375C>T	GRCh38
NC_000014.8:g.88442719C>T , CM000676.1:g.88442719C>T	GRCh37
NC_000014.7:g.87512472C>T	NCBI36
NG_011853.2:g.22189G>A
NG_011853.3:g.22189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.735G>A MANE Select	ENSP00000261304.2:p.Lys245=
ENST00000261304.6:c.735G>A	ENSP00000261304.2:p.Lys245=
ENST00000393568.8:c.666G>A	ENSP00000377198.4:p.Lys222=
ENST00000393569.6:c.657G>A	ENSP00000377199.2:p.Lys219=
ENST00000474294.6:n.725G>A
ENST00000477716.3:n.490G>A
ENST00000544807.6:c.567G>A	ENSP00000437513.2:p.Lys189=
ENST00000554916.5:n.614G>A
ENST00000555000.5:c.102G>A	ENSP00000450472.1:p.Lys34=
ENST00000557316.5:c.*133G>A	ENSP00000452314.1:n.*133G>A
ENST00000622264.4:c.725G>A
NM_000153.3:c.735G>A	NP_000144.2:p.Lys245=
NM_001201401.1:c.666G>A	NP_001188330.1:p.Lys222=
NM_001201402.1:c.657G>A	NP_001188331.1:p.Lys219=
XM_011536618.1:c.567G>A	XP_011534920.1:p.Lys189=
XM_011536618.2:c.567G>A	XP_011534920.1:p.Lys189=
NM_000153.4:c.735G>A MANE Select	NP_000144.2:p.Lys245=
NM_001201401.2:c.666G>A	NP_001188330.1:p.Lys222=
NM_001201402.2:c.657G>A	NP_001188331.1:p.Lys219=