Canonical Allele Identifier: CA487355580

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412064A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945720A>G , CM000676.2:g.87945720A>G	GRCh38
NC_000014.8:g.88412064A>G , CM000676.1:g.88412064A>G	GRCh37
NC_000014.7:g.87481817A>G	NCBI36
NG_011853.2:g.52844T>C
NG_011853.3:g.52844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1503T>C MANE Select	ENSP00000261304.2:p.Phe501=
ENST00000261304.6:c.1503T>C	ENSP00000261304.2:p.Phe501=
ENST00000393568.8:c.1434T>C	ENSP00000377198.4:p.Phe478=
ENST00000393569.6:c.1425T>C	ENSP00000377199.2:p.Phe475=
ENST00000544807.6:c.1335T>C	ENSP00000437513.2:p.Phe445=
ENST00000555000.5:c.870T>C	ENSP00000450472.1:p.Phe290=
ENST00000555179.1:c.206+2008T>C
ENST00000557316.5:c.*901T>C	ENSP00000452314.1:n.*901T>C
NM_000153.3:c.1503T>C	NP_000144.2:p.Phe501=
NM_001201401.1:c.1434T>C	NP_001188330.1:p.Phe478=
NM_001201402.1:c.1425T>C	NP_001188331.1:p.Phe475=
XM_011536618.1:c.1335T>C	XP_011534920.1:p.Phe445=
XM_011536618.2:c.1335T>C	XP_011534920.1:p.Phe445=
NM_000153.4:c.1503T>C MANE Select	NP_000144.2:p.Phe501=
NM_001201401.2:c.1434T>C	NP_001188330.1:p.Phe478=
NM_001201402.2:c.1425T>C	NP_001188331.1:p.Phe475=