Canonical Allele Identifier: CA487355584

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412070T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945726T>C , CM000676.2:g.87945726T>C	GRCh38
NC_000014.8:g.88412070T>C , CM000676.1:g.88412070T>C	GRCh37
NC_000014.7:g.87481823T>C	NCBI36
NG_011853.2:g.52838A>G
NG_011853.3:g.52838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1497A>G MANE Select	ENSP00000261304.2:p.Pro499=
ENST00000261304.6:c.1497A>G	ENSP00000261304.2:p.Pro499=
ENST00000393568.8:c.1428A>G	ENSP00000377198.4:p.Pro476=
ENST00000393569.6:c.1419A>G	ENSP00000377199.2:p.Pro473=
ENST00000544807.6:c.1329A>G	ENSP00000437513.2:p.Pro443=
ENST00000555000.5:c.864A>G	ENSP00000450472.1:p.Pro288=
ENST00000555179.1:c.206+2002A>G
ENST00000557316.5:c.*895A>G	ENSP00000452314.1:n.*895A>G
NM_000153.3:c.1497A>G	NP_000144.2:p.Pro499=
NM_001201401.1:c.1428A>G	NP_001188330.1:p.Pro476=
NM_001201402.1:c.1419A>G	NP_001188331.1:p.Pro473=
XM_011536618.1:c.1329A>G	XP_011534920.1:p.Pro443=
XM_011536618.2:c.1329A>G	XP_011534920.1:p.Pro443=
NM_000153.4:c.1497A>G MANE Select	NP_000144.2:p.Pro499=
NM_001201401.2:c.1428A>G	NP_001188330.1:p.Pro476=
NM_001201402.2:c.1419A>G	NP_001188331.1:p.Pro473=