Canonical Allele Identifier: CA487355563

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412034A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945690A>G , CM000676.2:g.87945690A>G	GRCh38
NC_000014.8:g.88412034A>G , CM000676.1:g.88412034A>G	GRCh37
NC_000014.7:g.87481787A>G	NCBI36
NG_011853.2:g.52874T>C
NG_011853.3:g.52874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1533T>C MANE Select	ENSP00000261304.2:p.Thr511=
ENST00000261304.6:c.1533T>C	ENSP00000261304.2:p.Thr511=
ENST00000393568.8:c.1464T>C	ENSP00000377198.4:p.Thr488=
ENST00000393569.6:c.1455T>C	ENSP00000377199.2:p.Thr485=
ENST00000544807.6:c.1365T>C	ENSP00000437513.2:p.Thr455=
ENST00000555000.5:c.900T>C	ENSP00000450472.1:p.Thr300=
ENST00000555179.1:c.206+2038T>C
ENST00000557316.5:c.*931T>C	ENSP00000452314.1:n.*931T>C
NM_000153.3:c.1533T>C	NP_000144.2:p.Thr511=
NM_001201401.1:c.1464T>C	NP_001188330.1:p.Thr488=
NM_001201402.1:c.1455T>C	NP_001188331.1:p.Thr485=
XM_011536618.1:c.1365T>C	XP_011534920.1:p.Thr455=
XM_011536618.2:c.1365T>C	XP_011534920.1:p.Thr455=
NM_000153.4:c.1533T>C MANE Select	NP_000144.2:p.Thr511=
NM_001201401.2:c.1464T>C	NP_001188330.1:p.Thr488=
NM_001201402.2:c.1455T>C	NP_001188331.1:p.Thr485=