Canonical Allele Identifier: CA487366493

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450855T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984511T>G , CM000676.2:g.87984511T>G	GRCh38
NC_000014.8:g.88450855T>G , CM000676.1:g.88450855T>G	GRCh37
NC_000014.7:g.87520608T>G	NCBI36
NG_011853.2:g.14053A>C
NG_011853.3:g.14053A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.465A>C MANE Select	ENSP00000261304.2:p.Gly155=
ENST00000261304.6:c.465A>C	ENSP00000261304.2:p.Gly155=
ENST00000393568.8:c.396A>C	ENSP00000377198.4:p.Gly132=
ENST00000393569.6:c.387A>C	ENSP00000377199.2:p.Gly129=
ENST00000474294.6:n.455A>C
ENST00000544807.6:c.297A>C	ENSP00000437513.2:p.Gly99=
ENST00000554372.5:c.*214A>C	ENSP00000451884.1:n.*214A>C
ENST00000554916.5:n.344A>C
ENST00000556261.5:n.166A>C
ENST00000556879.5:c.525A>C	ENSP00000452208.1:n.525A>C
ENST00000557316.5:c.465A>C	ENSP00000452314.1:p.Gly155=
ENST00000622264.4:c.455A>C
NM_000153.3:c.465A>C	NP_000144.2:p.Gly155=
NM_001201401.1:c.396A>C	NP_001188330.1:p.Gly132=
NM_001201402.1:c.387A>C	NP_001188331.1:p.Gly129=
XM_011536618.1:c.297A>C	XP_011534920.1:p.Gly99=
XM_011536618.2:c.297A>C	XP_011534920.1:p.Gly99=
NM_000153.4:c.465A>C MANE Select	NP_000144.2:p.Gly155=
NM_001201401.2:c.396A>C	NP_001188330.1:p.Gly132=
NM_001201402.2:c.387A>C	NP_001188331.1:p.Gly129=