Canonical Allele Identifier: CA7296921

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941426T>C , CM000676.2:g.87941426T>C	GRCh38
NC_000014.8:g.88407770T>C , CM000676.1:g.88407770T>C	GRCh37
NC_000014.7:g.87477523T>C	NCBI36
NG_011853.2:g.57138A>G
NG_011853.3:g.57138A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1803A>G MANE Select	NP_000144.2:p.Ala601=
ENST00000261304.7:c.1803A>G MANE Select	ENSP00000261304.2:p.Ala601=
NM_000153.3:c.1803A>G	NP_000144.2:p.Ala601=
NM_001201401.1:c.1734A>G	NP_001188330.1:p.Ala578=
NM_001201401.2:c.1734A>G	NP_001188330.1:p.Ala578=
NM_001201402.1:c.1725A>G	NP_001188331.1:p.Ala575=
NM_001201402.2:c.1725A>G	NP_001188331.1:p.Ala575=
ENST00000261304.6:c.1803A>G	ENSP00000261304.2:p.Ala601=
ENST00000393568.8:c.1734A>G	ENSP00000377198.4:p.Ala578=
ENST00000393569.6:c.1725A>G	ENSP00000377199.2:p.Ala575=
ENST00000544807.6:c.1635A>G	ENSP00000437513.2:p.Ala545=
ENST00000555000.5:c.1170A>G	ENSP00000450472.1:p.Ala390=
ENST00000555179.1:c.339A>G
ENST00000557316.5:c.*1201A>G	ENSP00000452314.1:n.*1201A>G
XM_011536618.1:c.1635A>G	XP_011534920.1:p.Ala545=
XM_011536618.2:c.1635A>G	XP_011534920.1:p.Ala545=