Canonical Allele Identifier: CA487366295

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442794T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976450T>C , CM000676.2:g.87976450T>C	GRCh38
NC_000014.8:g.88442794T>C , CM000676.1:g.88442794T>C	GRCh37
NC_000014.7:g.87512547T>C	NCBI36
NG_011853.2:g.22114A>G
NG_011853.3:g.22114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.660A>G MANE Select	ENSP00000261304.2:p.Arg220=
ENST00000261304.6:c.660A>G	ENSP00000261304.2:p.Arg220=
ENST00000393568.8:c.591A>G	ENSP00000377198.4:p.Arg197=
ENST00000393569.6:c.582A>G	ENSP00000377199.2:p.Arg194=
ENST00000474294.6:n.650A>G
ENST00000477716.3:n.415A>G
ENST00000544807.6:c.492A>G	ENSP00000437513.2:p.Arg164=
ENST00000554916.5:n.539A>G
ENST00000555000.5:c.27A>G	ENSP00000450472.1:p.Arg9=
ENST00000557316.5:c.*58A>G	ENSP00000452314.1:n.*58A>G
ENST00000622264.4:c.650A>G
NM_000153.3:c.660A>G	NP_000144.2:p.Arg220=
NM_001201401.1:c.591A>G	NP_001188330.1:p.Arg197=
NM_001201402.1:c.582A>G	NP_001188331.1:p.Arg194=
XM_011536618.1:c.492A>G	XP_011534920.1:p.Arg164=
XM_011536618.2:c.492A>G	XP_011534920.1:p.Arg164=
NM_000153.4:c.660A>G MANE Select	NP_000144.2:p.Arg220=
NM_001201401.2:c.591A>G	NP_001188330.1:p.Arg197=
NM_001201402.2:c.582A>G	NP_001188331.1:p.Arg194=