Canonical Allele Identifier: CA386301117

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766136A>G , CM000674.2:g.101766136A>G	GRCh38
NC_000012.11:g.102159914A>G , CM000674.1:g.102159914A>G	GRCh37
NC_000012.10:g.100684045A>G	NCBI36
NG_021243.1:g.69732T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1567T>C MANE Select	NP_077288.2:p.Cys523Arg
ENST00000299314.12:c.1567T>C MANE Select	ENSP00000299314.7:p.Cys523Arg
NM_024312.4:c.1567T>C	NP_077288.2:p.Cys523Arg
ENST00000299314.11:c.1567T>C	ENSP00000299314.7:p.Cys523Arg
ENST00000552009.1:n.226T>C
XM_006719593.2:c.1567T>C	XP_006719656.1:p.Cys523Arg
XM_006719593.3:c.1567T>C	XP_006719656.1:p.Cys523Arg
XM_011538731.1:c.1486T>C	XP_011537033.1:p.Cys496Arg
XM_011538731.2:c.1486T>C	XP_011537033.1:p.Cys496Arg
XM_017019961.1:c.1351T>C	XP_016875450.1:p.Cys451Arg
XM_017019962.2:c.340T>C	XP_016875451.1:p.Cys114Arg