Canonical Allele Identifier: CA487365178

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434681A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968337A>C , CM000676.2:g.87968337A>C	GRCh38
NC_000014.8:g.88434681A>C , CM000676.1:g.88434681A>C	GRCh37
NC_000014.7:g.87504434A>C	NCBI36
NG_011853.2:g.30227T>G
NG_011853.3:g.30227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.906T>G MANE Select	ENSP00000261304.2:p.Thr302=
ENST00000261304.6:c.906T>G	ENSP00000261304.2:p.Thr302=
ENST00000393568.8:c.837T>G	ENSP00000377198.4:p.Thr279=
ENST00000393569.6:c.828T>G	ENSP00000377199.2:p.Thr276=
ENST00000474294.6:n.896T>G
ENST00000544807.6:c.738T>G	ENSP00000437513.2:p.Thr246=
ENST00000555000.5:c.273T>G	ENSP00000450472.1:p.Thr91=
ENST00000557316.5:c.*304T>G	ENSP00000452314.1:n.*304T>G
ENST00000622264.4:c.896T>G
NM_000153.3:c.906T>G	NP_000144.2:p.Thr302=
NM_001201401.1:c.837T>G	NP_001188330.1:p.Thr279=
NM_001201402.1:c.828T>G	NP_001188331.1:p.Thr276=
XM_011536618.1:c.738T>G	XP_011534920.1:p.Thr246=
XM_011536618.2:c.738T>G	XP_011534920.1:p.Thr246=
NM_000153.4:c.906T>G MANE Select	NP_000144.2:p.Thr302=
NM_001201401.2:c.837T>G	NP_001188330.1:p.Thr279=
NM_001201402.2:c.828T>G	NP_001188331.1:p.Thr276=