Canonical Allele Identifier: CA390747959

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968413C>T , CM000676.2:g.87968413C>T	GRCh38
NC_000014.8:g.88434757C>T , CM000676.1:g.88434757C>T	GRCh37
NC_000014.7:g.87504510C>T	NCBI36
NG_011853.2:g.30151G>A
NG_011853.3:g.30151G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.830G>A MANE Select	NP_000144.2:p.Ser277Asn
ENST00000261304.7:c.830G>A MANE Select	ENSP00000261304.2:p.Ser277Asn
NM_000153.3:c.830G>A	NP_000144.2:p.Ser277Asn
NM_001201401.1:c.761G>A	NP_001188330.1:p.Ser254Asn
NM_001201401.2:c.761G>A	NP_001188330.1:p.Ser254Asn
NM_001201402.1:c.752G>A	NP_001188331.1:p.Ser251Asn
NM_001201402.2:c.752G>A	NP_001188331.1:p.Ser251Asn
ENST00000261304.6:c.830G>A	ENSP00000261304.2:p.Ser277Asn
ENST00000393568.8:c.761G>A	ENSP00000377198.4:p.Ser254Asn
ENST00000393569.6:c.752G>A	ENSP00000377199.2:p.Ser251Asn
ENST00000474294.6:n.820G>A
ENST00000477716.3:n.585G>A
ENST00000544807.6:c.662G>A	ENSP00000437513.2:p.Ser221Asn
ENST00000555000.5:c.197G>A	ENSP00000450472.1:p.Ser66Asn
ENST00000557316.5:c.*228G>A	ENSP00000452314.1:n.*228G>A
ENST00000622264.4:c.820G>A
XM_011536618.1:c.662G>A	XP_011534920.1:p.Ser221Asn
XM_011536618.2:c.662G>A	XP_011534920.1:p.Ser221Asn