Canonical Allele Identifier: CA386302882

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770185A>T , CM000674.2:g.101770185A>T	GRCh38
NC_000012.11:g.102163963A>T , CM000674.1:g.102163963A>T	GRCh37
NC_000012.10:g.100688094A>T	NCBI36
NG_021243.1:g.65683T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1120T>A MANE Select	ENSP00000299314.7:p.Phe374Ile
ENST00000299314.11:c.1120T>A	ENSP00000299314.7:p.Phe374Ile
ENST00000549940.5:c.1120T>A	ENSP00000449150.1:p.Phe374Ile
NM_024312.4:c.1120T>A	NP_077288.2:p.Phe374Ile
XM_006719593.2:c.1120T>A	XP_006719656.1:p.Phe374Ile
XM_011538731.1:c.1039T>A	XP_011537033.1:p.Phe347Ile
XM_006719593.3:c.1120T>A	XP_006719656.1:p.Phe374Ile
XM_011538731.2:c.1039T>A	XP_011537033.1:p.Phe347Ile
XM_017019961.1:c.904T>A	XP_016875450.1:p.Phe302Ile
XM_017019962.2:c.-108T>A	XP_016875451.1:n.-108T>A
NM_024312.5:c.1120T>A MANE Select	NP_077288.2:p.Phe374Ile