Canonical Allele Identifier: CA390748003

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968422T>G , CM000676.2:g.87968422T>G	GRCh38
NC_000014.8:g.88434766T>G , CM000676.1:g.88434766T>G	GRCh37
NC_000014.7:g.87504519T>G	NCBI36
NG_011853.2:g.30142A>C
NG_011853.3:g.30142A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.821A>C MANE Select	ENSP00000261304.2:p.Glu274Ala
ENST00000261304.6:c.821A>C	ENSP00000261304.2:p.Glu274Ala
ENST00000393568.8:c.752A>C	ENSP00000377198.4:p.Glu251Ala
ENST00000393569.6:c.743A>C	ENSP00000377199.2:p.Glu248Ala
ENST00000474294.6:n.811A>C
ENST00000477716.3:n.576A>C
ENST00000544807.6:c.653A>C	ENSP00000437513.2:p.Glu218Ala
ENST00000555000.5:c.188A>C	ENSP00000450472.1:p.Glu63Ala
ENST00000557316.5:c.*219A>C	ENSP00000452314.1:n.*219A>C
ENST00000622264.4:c.811A>C
NM_000153.3:c.821A>C	NP_000144.2:p.Glu274Ala
NM_001201401.1:c.752A>C	NP_001188330.1:p.Glu251Ala
NM_001201402.1:c.743A>C	NP_001188331.1:p.Glu248Ala
XM_011536618.1:c.653A>C	XP_011534920.1:p.Glu218Ala
XM_011536618.2:c.653A>C	XP_011534920.1:p.Glu218Ala
NM_000153.4:c.821A>C MANE Select	NP_000144.2:p.Glu274Ala
NM_001201401.2:c.752A>C	NP_001188330.1:p.Glu251Ala
NM_001201402.2:c.743A>C	NP_001188331.1:p.Glu248Ala