Canonical Allele Identifier: CA390745752

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941476C>A , CM000676.2:g.87941476C>A	GRCh38
NC_000014.8:g.88407820C>A , CM000676.1:g.88407820C>A	GRCh37
NC_000014.7:g.87477573C>A	NCBI36
NG_011853.2:g.57088G>T
NG_011853.3:g.57088G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1753G>T MANE Select	NP_000144.2:p.Gly585Cys
ENST00000261304.7:c.1753G>T MANE Select	ENSP00000261304.2:p.Gly585Cys
NM_000153.3:c.1753G>T	NP_000144.2:p.Gly585Cys
NM_001201401.1:c.1684G>T	NP_001188330.1:p.Gly562Cys
NM_001201401.2:c.1684G>T	NP_001188330.1:p.Gly562Cys
NM_001201402.1:c.1675G>T	NP_001188331.1:p.Gly559Cys
NM_001201402.2:c.1675G>T	NP_001188331.1:p.Gly559Cys
ENST00000261304.6:c.1753G>T	ENSP00000261304.2:p.Gly585Cys
ENST00000393568.8:c.1684G>T	ENSP00000377198.4:p.Gly562Cys
ENST00000393569.6:c.1675G>T	ENSP00000377199.2:p.Gly559Cys
ENST00000544807.6:c.1585G>T	ENSP00000437513.2:p.Gly529Cys
ENST00000555000.5:c.1120G>T	ENSP00000450472.1:p.Gly374Cys
ENST00000555179.1:c.289G>T
ENST00000557316.5:c.*1151G>T	ENSP00000452314.1:n.*1151G>T
XM_011536618.1:c.1585G>T	XP_011534920.1:p.Gly529Cys
XM_011536618.2:c.1585G>T	XP_011534920.1:p.Gly529Cys