Canonical Allele Identifier: CA386292195

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753399A>T , CM000674.2:g.101753399A>T	GRCh38
NC_000012.11:g.102147177A>T , CM000674.1:g.102147177A>T	GRCh37
NC_000012.10:g.100671308A>T	NCBI36
NG_021243.1:g.82469T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3575T>A MANE Select	NP_077288.2:p.Phe1192Tyr
ENST00000299314.12:c.3575T>A MANE Select	ENSP00000299314.7:p.Phe1192Tyr
NM_024312.4:c.3575T>A	NP_077288.2:p.Phe1192Tyr
ENST00000299314.11:c.3575T>A	ENSP00000299314.7:p.Phe1192Tyr
ENST00000549738.5:c.473T>A	ENSP00000450161.1:n.473T>A
XM_011538731.1:c.3494T>A	XP_011537033.1:p.Phe1165Tyr
XM_011538731.2:c.3494T>A	XP_011537033.1:p.Phe1165Tyr
XM_017019961.1:c.3359T>A	XP_016875450.1:p.Phe1120Tyr
XM_017019962.2:c.2348T>A	XP_016875451.1:p.Phe783Tyr