Canonical Allele Identifier: CA390746396

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414085A>T (hg19) ; chr14:g.87947741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947741A>T , CM000676.2:g.87947741A>T	GRCh38
NC_000014.8:g.88414085A>T , CM000676.1:g.88414085A>T	GRCh37
NC_000014.7:g.87483838A>T	NCBI36
NG_011853.2:g.50823T>A
NG_011853.3:g.50823T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1476T>A MANE Select	ENSP00000261304.2:p.Asp492Glu
ENST00000261304.6:c.1476T>A	ENSP00000261304.2:p.Asp492Glu
ENST00000393568.8:c.1407T>A	ENSP00000377198.4:p.Asp469Glu
ENST00000393569.6:c.1398T>A	ENSP00000377199.2:p.Asp466Glu
ENST00000544807.6:c.1308T>A	ENSP00000437513.2:p.Asp436Glu
ENST00000555000.5:c.843T>A	ENSP00000450472.1:p.Asp281Glu
ENST00000555179.1:c.193T>A
ENST00000557316.5:c.*874T>A	ENSP00000452314.1:n.*874T>A
NM_000153.3:c.1476T>A	NP_000144.2:p.Asp492Glu
NM_001201401.1:c.1407T>A	NP_001188330.1:p.Asp469Glu
NM_001201402.1:c.1398T>A	NP_001188331.1:p.Asp466Glu
XM_011536618.1:c.1308T>A	XP_011534920.1:p.Asp436Glu
XM_011536618.2:c.1308T>A	XP_011534920.1:p.Asp436Glu
NM_000153.4:c.1476T>A MANE Select	NP_000144.2:p.Asp492Glu
NM_001201401.2:c.1407T>A	NP_001188330.1:p.Asp469Glu
NM_001201402.2:c.1398T>A	NP_001188331.1:p.Asp466Glu