Canonical Allele Identifier: CA390748227

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968479G>T , CM000676.2:g.87968479G>T	GRCh38
NC_000014.8:g.88434823G>T , CM000676.1:g.88434823G>T	GRCh37
NC_000014.7:g.87504576G>T	NCBI36
NG_011853.2:g.30085C>A
NG_011853.3:g.30085C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.764C>A MANE Select	NP_000144.2:p.Pro255His
ENST00000261304.7:c.764C>A MANE Select	ENSP00000261304.2:p.Pro255His
NM_000153.3:c.764C>A	NP_000144.2:p.Pro255His
NM_001201401.1:c.695C>A	NP_001188330.1:p.Pro232His
NM_001201401.2:c.695C>A	NP_001188330.1:p.Pro232His
NM_001201402.1:c.686C>A	NP_001188331.1:p.Pro229His
NM_001201402.2:c.686C>A	NP_001188331.1:p.Pro229His
ENST00000261304.6:c.764C>A	ENSP00000261304.2:p.Pro255His
ENST00000393568.8:c.695C>A	ENSP00000377198.4:p.Pro232His
ENST00000393569.6:c.686C>A	ENSP00000377199.2:p.Pro229His
ENST00000474294.6:n.754C>A
ENST00000477716.3:n.519C>A
ENST00000544807.6:c.596C>A	ENSP00000437513.2:p.Pro199His
ENST00000555000.5:c.131C>A	ENSP00000450472.1:p.Pro44His
ENST00000557316.5:c.*162C>A	ENSP00000452314.1:n.*162C>A
ENST00000622264.4:c.754C>A
XM_011536618.1:c.596C>A	XP_011534920.1:p.Pro199His
XM_011536618.2:c.596C>A	XP_011534920.1:p.Pro199His