Canonical Allele Identifier: CA390749696

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442807T>G (hg19) ; chr14:g.87976463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976463T>G , CM000676.2:g.87976463T>G	GRCh38
NC_000014.8:g.88442807T>G , CM000676.1:g.88442807T>G	GRCh37
NC_000014.7:g.87512560T>G	NCBI36
NG_011853.2:g.22101A>C
NG_011853.3:g.22101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.647A>C MANE Select	ENSP00000261304.2:p.Gln216Pro
ENST00000261304.6:c.647A>C	ENSP00000261304.2:p.Gln216Pro
ENST00000393568.8:c.578A>C	ENSP00000377198.4:p.Gln193Pro
ENST00000393569.6:c.569A>C	ENSP00000377199.2:p.Gln190Pro
ENST00000474294.6:n.637A>C
ENST00000477716.3:n.402A>C
ENST00000544807.6:c.479A>C	ENSP00000437513.2:p.Gln160Pro
ENST00000554916.5:n.526A>C
ENST00000555000.5:c.14A>C	ENSP00000450472.1:p.Gln5Pro
ENST00000557316.5:c.*45A>C	ENSP00000452314.1:n.*45A>C
ENST00000622264.4:c.637A>C
NM_000153.3:c.647A>C	NP_000144.2:p.Gln216Pro
NM_001201401.1:c.578A>C	NP_001188330.1:p.Gln193Pro
NM_001201402.1:c.569A>C	NP_001188331.1:p.Gln190Pro
XM_011536618.1:c.479A>C	XP_011534920.1:p.Gln160Pro
XM_011536618.2:c.479A>C	XP_011534920.1:p.Gln160Pro
NM_000153.4:c.647A>C MANE Select	NP_000144.2:p.Gln216Pro
NM_001201401.2:c.578A>C	NP_001188330.1:p.Gln193Pro
NM_001201402.2:c.569A>C	NP_001188331.1:p.Gln190Pro