Canonical Allele Identifier: CA390747796

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968375G>T , CM000676.2:g.87968375G>T	GRCh38
NC_000014.8:g.88434719G>T , CM000676.1:g.88434719G>T	GRCh37
NC_000014.7:g.87504472G>T	NCBI36
NG_011853.2:g.30189C>A
NG_011853.3:g.30189C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.868C>A MANE Select	NP_000144.2:p.Arg290Ser
ENST00000261304.7:c.868C>A MANE Select	ENSP00000261304.2:p.Arg290Ser
NM_000153.3:c.868C>A	NP_000144.2:p.Arg290Ser
NM_001201401.1:c.799C>A	NP_001188330.1:p.Arg267Ser
NM_001201401.2:c.799C>A	NP_001188330.1:p.Arg267Ser
NM_001201402.1:c.790C>A	NP_001188331.1:p.Arg264Ser
NM_001201402.2:c.790C>A	NP_001188331.1:p.Arg264Ser
ENST00000261304.6:c.868C>A	ENSP00000261304.2:p.Arg290Ser
ENST00000393568.8:c.799C>A	ENSP00000377198.4:p.Arg267Ser
ENST00000393569.6:c.790C>A	ENSP00000377199.2:p.Arg264Ser
ENST00000474294.6:n.858C>A
ENST00000544807.6:c.700C>A	ENSP00000437513.2:p.Arg234Ser
ENST00000555000.5:c.235C>A	ENSP00000450472.1:p.Arg79Ser
ENST00000557316.5:c.*266C>A	ENSP00000452314.1:n.*266C>A
ENST00000622264.4:c.858C>A
XM_011536618.1:c.700C>A	XP_011534920.1:p.Arg234Ser
XM_011536618.2:c.700C>A	XP_011534920.1:p.Arg234Ser