Canonical Allele Identifier: CA390747320

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963480C>A , CM000676.2:g.87963480C>A	GRCh38
NC_000014.8:g.88429824C>A , CM000676.1:g.88429824C>A	GRCh37
NC_000014.7:g.87499577C>A	NCBI36
NG_011853.2:g.35084G>T
NG_011853.3:g.35084G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1065G>T MANE Select	NP_000144.2:p.Trp355Cys
ENST00000261304.7:c.1065G>T MANE Select	ENSP00000261304.2:p.Trp355Cys
NM_000153.3:c.1065G>T	NP_000144.2:p.Trp355Cys
NM_001201401.1:c.996G>T	NP_001188330.1:p.Trp332Cys
NM_001201401.2:c.996G>T	NP_001188330.1:p.Trp332Cys
NM_001201402.1:c.987G>T	NP_001188331.1:p.Trp329Cys
NM_001201402.2:c.987G>T	NP_001188331.1:p.Trp329Cys
ENST00000261304.6:c.1065G>T	ENSP00000261304.2:p.Trp355Cys
ENST00000393568.8:c.996G>T	ENSP00000377198.4:p.Trp332Cys
ENST00000393569.6:c.987G>T	ENSP00000377199.2:p.Trp329Cys
ENST00000474294.6:n.1055G>T
ENST00000544807.6:c.897G>T	ENSP00000437513.2:p.Trp299Cys
ENST00000555000.5:c.432G>T	ENSP00000450472.1:p.Trp144Cys
ENST00000557316.5:c.*463G>T	ENSP00000452314.1:n.*463G>T
ENST00000557520.1:n.151G>T
ENST00000622264.4:c.1055G>T
XM_011536618.1:c.897G>T	XP_011534920.1:p.Trp299Cys
XM_011536618.2:c.897G>T	XP_011534920.1:p.Trp299Cys