Canonical Allele Identifier: CA487355576

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412055A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945711A>G , CM000676.2:g.87945711A>G	GRCh38
NC_000014.8:g.88412055A>G , CM000676.1:g.88412055A>G	GRCh37
NC_000014.7:g.87481808A>G	NCBI36
NG_011853.2:g.52853T>C
NG_011853.3:g.52853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1512T>C MANE Select	ENSP00000261304.2:p.Ala504=
ENST00000261304.6:c.1512T>C	ENSP00000261304.2:p.Ala504=
ENST00000393568.8:c.1443T>C	ENSP00000377198.4:p.Ala481=
ENST00000393569.6:c.1434T>C	ENSP00000377199.2:p.Ala478=
ENST00000544807.6:c.1344T>C	ENSP00000437513.2:p.Ala448=
ENST00000555000.5:c.879T>C	ENSP00000450472.1:p.Ala293=
ENST00000555179.1:c.206+2017T>C
ENST00000557316.5:c.*910T>C	ENSP00000452314.1:n.*910T>C
NM_000153.3:c.1512T>C	NP_000144.2:p.Ala504=
NM_001201401.1:c.1443T>C	NP_001188330.1:p.Ala481=
NM_001201402.1:c.1434T>C	NP_001188331.1:p.Ala478=
XM_011536618.1:c.1344T>C	XP_011534920.1:p.Ala448=
XM_011536618.2:c.1344T>C	XP_011534920.1:p.Ala448=
NM_000153.4:c.1512T>C MANE Select	NP_000144.2:p.Ala504=
NM_001201401.2:c.1443T>C	NP_001188330.1:p.Ala481=
NM_001201402.2:c.1434T>C	NP_001188331.1:p.Ala478=