Canonical Allele Identifier: CA386301856

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161850T>A (hg19) ; chr12:g.101768072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768072T>A , CM000674.2:g.101768072T>A	GRCh38
NC_000012.11:g.102161850T>A , CM000674.1:g.102161850T>A	GRCh37
NC_000012.10:g.100685981T>A	NCBI36
NG_021243.1:g.67796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1373A>T MANE Select	ENSP00000299314.7:p.Asn458Ile
ENST00000299314.11:c.1373A>T	ENSP00000299314.7:p.Asn458Ile
ENST00000549940.5:c.1373A>T	ENSP00000449150.1:p.Asn458Ile
ENST00000552009.1:n.32A>T
NM_024312.4:c.1373A>T	NP_077288.2:p.Asn458Ile
XM_006719593.2:c.1373A>T	XP_006719656.1:p.Asn458Ile
XM_011538731.1:c.1292A>T	XP_011537033.1:p.Asn431Ile
XM_006719593.3:c.1373A>T	XP_006719656.1:p.Asn458Ile
XM_011538731.2:c.1292A>T	XP_011537033.1:p.Asn431Ile
XM_017019961.1:c.1157A>T	XP_016875450.1:p.Asn386Ile
XM_017019962.2:c.146A>T	XP_016875451.1:p.Asn49Ile
NM_024312.5:c.1373A>T MANE Select	NP_077288.2:p.Asn458Ile