Canonical Allele Identifier: CA390746165

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411997C>T (hg19) ; chr14:g.87945653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945653C>T , CM000676.2:g.87945653C>T	GRCh38
NC_000014.8:g.88411997C>T , CM000676.1:g.88411997C>T	GRCh37
NC_000014.7:g.87481750C>T	NCBI36
NG_011853.2:g.52911G>A
NG_011853.3:g.52911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1570G>A MANE Select	ENSP00000261304.2:p.Gly524Ser
ENST00000261304.6:c.1570G>A	ENSP00000261304.2:p.Gly524Ser
ENST00000393568.8:c.1501G>A	ENSP00000377198.4:p.Gly501Ser
ENST00000393569.6:c.1492G>A	ENSP00000377199.2:p.Gly498Ser
ENST00000544807.6:c.1402G>A	ENSP00000437513.2:p.Gly468Ser
ENST00000555000.5:c.937G>A	ENSP00000450472.1:p.Gly313Ser
ENST00000555179.1:c.206+2075G>A
ENST00000557316.5:c.*968G>A	ENSP00000452314.1:n.*968G>A
NM_000153.3:c.1570G>A	NP_000144.2:p.Gly524Ser
NM_001201401.1:c.1501G>A	NP_001188330.1:p.Gly501Ser
NM_001201402.1:c.1492G>A	NP_001188331.1:p.Gly498Ser
XM_011536618.1:c.1402G>A	XP_011534920.1:p.Gly468Ser
XM_011536618.2:c.1402G>A	XP_011534920.1:p.Gly468Ser
NM_000153.4:c.1570G>A MANE Select	NP_000144.2:p.Gly524Ser
NM_001201401.2:c.1501G>A	NP_001188330.1:p.Gly501Ser
NM_001201402.2:c.1492G>A	NP_001188331.1:p.Gly498Ser