Canonical Allele Identifier: CA390745692

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941448C>A , CM000676.2:g.87941448C>A	GRCh38
NC_000014.8:g.88407792C>A , CM000676.1:g.88407792C>A	GRCh37
NC_000014.7:g.87477545C>A	NCBI36
NG_011853.2:g.57116G>T
NG_011853.3:g.57116G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1781G>T MANE Select	NP_000144.2:p.Gly594Val
ENST00000261304.7:c.1781G>T MANE Select	ENSP00000261304.2:p.Gly594Val
NM_000153.3:c.1781G>T	NP_000144.2:p.Gly594Val
NM_001201401.1:c.1712G>T	NP_001188330.1:p.Gly571Val
NM_001201401.2:c.1712G>T	NP_001188330.1:p.Gly571Val
NM_001201402.1:c.1703G>T	NP_001188331.1:p.Gly568Val
NM_001201402.2:c.1703G>T	NP_001188331.1:p.Gly568Val
ENST00000261304.6:c.1781G>T	ENSP00000261304.2:p.Gly594Val
ENST00000393568.8:c.1712G>T	ENSP00000377198.4:p.Gly571Val
ENST00000393569.6:c.1703G>T	ENSP00000377199.2:p.Gly568Val
ENST00000544807.6:c.1613G>T	ENSP00000437513.2:p.Gly538Val
ENST00000555000.5:c.1148G>T	ENSP00000450472.1:p.Gly383Val
ENST00000555179.1:c.317G>T
ENST00000557316.5:c.*1179G>T	ENSP00000452314.1:n.*1179G>T
XM_011536618.1:c.1613G>T	XP_011534920.1:p.Gly538Val
XM_011536618.2:c.1613G>T	XP_011534920.1:p.Gly538Val