Canonical Allele Identifier: CA487366207

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442704T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976360T>G , CM000676.2:g.87976360T>G	GRCh38
NC_000014.8:g.88442704T>G , CM000676.1:g.88442704T>G	GRCh37
NC_000014.7:g.87512457T>G	NCBI36
NG_011853.2:g.22204A>C
NG_011853.3:g.22204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.750A>C MANE Select	ENSP00000261304.2:p.Ile250=
ENST00000261304.6:c.750A>C	ENSP00000261304.2:p.Ile250=
ENST00000393568.8:c.681A>C	ENSP00000377198.4:p.Ile227=
ENST00000393569.6:c.672A>C	ENSP00000377199.2:p.Ile224=
ENST00000474294.6:n.740A>C
ENST00000477716.3:n.505A>C
ENST00000544807.6:c.582A>C	ENSP00000437513.2:p.Ile194=
ENST00000554916.5:n.629A>C
ENST00000555000.5:c.117A>C	ENSP00000450472.1:p.Ile39=
ENST00000557316.5:c.*148A>C	ENSP00000452314.1:n.*148A>C
ENST00000622264.4:c.740A>C
NM_000153.3:c.750A>C	NP_000144.2:p.Ile250=
NM_001201401.1:c.681A>C	NP_001188330.1:p.Ile227=
NM_001201402.1:c.672A>C	NP_001188331.1:p.Ile224=
XM_011536618.1:c.582A>C	XP_011534920.1:p.Ile194=
XM_011536618.2:c.582A>C	XP_011534920.1:p.Ile194=
NM_000153.4:c.750A>C MANE Select	NP_000144.2:p.Ile250=
NM_001201401.2:c.681A>C	NP_001188330.1:p.Ile227=
NM_001201402.2:c.672A>C	NP_001188331.1:p.Ile224=