Canonical Allele Identifier: CA390746364

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414072C>T (hg19) ; chr14:g.87947728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947728C>T , CM000676.2:g.87947728C>T	GRCh38
NC_000014.8:g.88414072C>T , CM000676.1:g.88414072C>T	GRCh37
NC_000014.7:g.87483825C>T	NCBI36
NG_011853.2:g.50836G>A
NG_011853.3:g.50836G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489G>A MANE Select	ENSP00000261304.2:p.Asp497Asn
ENST00000261304.6:c.1489G>A	ENSP00000261304.2:p.Asp497Asn
ENST00000393568.8:c.1420G>A	ENSP00000377198.4:p.Asp474Asn
ENST00000393569.6:c.1411G>A	ENSP00000377199.2:p.Asp471Asn
ENST00000544807.6:c.1321G>A	ENSP00000437513.2:p.Asp441Asn
ENST00000555000.5:c.856G>A	ENSP00000450472.1:p.Asp286Asn
ENST00000555179.1:c.206G>A
ENST00000557316.5:c.*887G>A	ENSP00000452314.1:n.*887G>A
NM_000153.3:c.1489G>A	NP_000144.2:p.Asp497Asn
NM_001201401.1:c.1420G>A	NP_001188330.1:p.Asp474Asn
NM_001201402.1:c.1411G>A	NP_001188331.1:p.Asp471Asn
XM_011536618.1:c.1321G>A	XP_011534920.1:p.Asp441Asn
XM_011536618.2:c.1321G>A	XP_011534920.1:p.Asp441Asn
NM_000153.4:c.1489G>A MANE Select	NP_000144.2:p.Asp497Asn
NM_001201401.2:c.1420G>A	NP_001188330.1:p.Asp474Asn
NM_001201402.2:c.1411G>A	NP_001188331.1:p.Asp471Asn