Canonical Allele Identifier: CA386303356

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1953156487
• MyVariant Identifiers: chr12:g.102164344A>T (hg19) ; chr12:g.101770566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770566A>T , CM000674.2:g.101770566A>T	GRCh38
NC_000012.11:g.102164344A>T , CM000674.1:g.102164344A>T	GRCh37
NC_000012.10:g.100688475A>T	NCBI36
NG_021243.1:g.65302T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.953T>A MANE Select	ENSP00000299314.7:p.Ile318Asn
ENST00000299314.11:c.953T>A	ENSP00000299314.7:p.Ile318Asn
ENST00000549940.5:c.953T>A	ENSP00000449150.1:p.Ile318Asn
NM_024312.4:c.953T>A	NP_077288.2:p.Ile318Asn
XM_006719593.2:c.953T>A	XP_006719656.1:p.Ile318Asn
XM_011538731.1:c.872T>A	XP_011537033.1:p.Ile291Asn
XM_006719593.3:c.953T>A	XP_006719656.1:p.Ile318Asn
XM_011538731.2:c.872T>A	XP_011537033.1:p.Ile291Asn
XM_017019961.1:c.737T>A	XP_016875450.1:p.Ile246Asn
XM_017019962.2:c.-275T>A	XP_016875451.1:n.-275T>A
NM_024312.5:c.953T>A MANE Select	NP_077288.2:p.Ile318Asn