Canonical Allele Identifier: CA390746125

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945637G>T , CM000676.2:g.87945637G>T	GRCh38
NC_000014.8:g.88411981G>T , CM000676.1:g.88411981G>T	GRCh37
NC_000014.7:g.87481734G>T	NCBI36
NG_011853.2:g.52927C>A
NG_011853.3:g.52927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1586C>A MANE Select	ENSP00000261304.2:p.Thr529Lys
ENST00000261304.6:c.1586C>A	ENSP00000261304.2:p.Thr529Lys
ENST00000393568.8:c.1517C>A	ENSP00000377198.4:p.Thr506Lys
ENST00000393569.6:c.1508C>A	ENSP00000377199.2:p.Thr503Lys
ENST00000544807.6:c.1418C>A	ENSP00000437513.2:p.Thr473Lys
ENST00000555000.5:c.953C>A	ENSP00000450472.1:p.Thr318Lys
ENST00000555179.1:c.206+2091C>A
ENST00000557316.5:c.*984C>A	ENSP00000452314.1:n.*984C>A
NM_000153.3:c.1586C>A	NP_000144.2:p.Thr529Lys
NM_001201401.1:c.1517C>A	NP_001188330.1:p.Thr506Lys
NM_001201402.1:c.1508C>A	NP_001188331.1:p.Thr503Lys
XM_011536618.1:c.1418C>A	XP_011534920.1:p.Thr473Lys
XM_011536618.2:c.1418C>A	XP_011534920.1:p.Thr473Lys
NM_000153.4:c.1586C>A MANE Select	NP_000144.2:p.Thr529Lys
NM_001201401.2:c.1517C>A	NP_001188330.1:p.Thr506Lys
NM_001201402.2:c.1508C>A	NP_001188331.1:p.Thr503Lys