Canonical Allele Identifier: CA487366253

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442749T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976405T>G , CM000676.2:g.87976405T>G	GRCh38
NC_000014.8:g.88442749T>G , CM000676.1:g.88442749T>G	GRCh37
NC_000014.7:g.87512502T>G	NCBI36
NG_011853.2:g.22159A>C
NG_011853.3:g.22159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.705A>C MANE Select	ENSP00000261304.2:p.Ala235=
ENST00000261304.6:c.705A>C	ENSP00000261304.2:p.Ala235=
ENST00000393568.8:c.636A>C	ENSP00000377198.4:p.Ala212=
ENST00000393569.6:c.627A>C	ENSP00000377199.2:p.Ala209=
ENST00000474294.6:n.695A>C
ENST00000477716.3:n.460A>C
ENST00000544807.6:c.537A>C	ENSP00000437513.2:p.Ala179=
ENST00000554916.5:n.584A>C
ENST00000555000.5:c.72A>C	ENSP00000450472.1:p.Ala24=
ENST00000557316.5:c.*103A>C	ENSP00000452314.1:n.*103A>C
ENST00000622264.4:c.695A>C
NM_000153.3:c.705A>C	NP_000144.2:p.Ala235=
NM_001201401.1:c.636A>C	NP_001188330.1:p.Ala212=
NM_001201402.1:c.627A>C	NP_001188331.1:p.Ala209=
XM_011536618.1:c.537A>C	XP_011534920.1:p.Ala179=
XM_011536618.2:c.537A>C	XP_011534920.1:p.Ala179=
NM_000153.4:c.705A>C MANE Select	NP_000144.2:p.Ala235=
NM_001201401.2:c.636A>C	NP_001188330.1:p.Ala212=
NM_001201402.2:c.627A>C	NP_001188331.1:p.Ala209=