Canonical Allele Identifier: CA386304966

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179880A>T (hg19) ; chr12:g.101786102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786102A>T , CM000674.2:g.101786102A>T	GRCh38
NC_000012.11:g.102179880A>T , CM000674.1:g.102179880A>T	GRCh37
NC_000012.10:g.100704011A>T	NCBI36
NG_021243.1:g.49766T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.481T>A MANE Select	ENSP00000299314.7:p.Phe161Ile
ENST00000299314.11:c.481T>A	ENSP00000299314.7:p.Phe161Ile
ENST00000549940.5:c.481T>A	ENSP00000449150.1:p.Phe161Ile
ENST00000550352.1:n.275T>A
ENST00000552681.1:c.115T>A	ENSP00000449217.1:p.Phe39Ile
NM_024312.4:c.481T>A	NP_077288.2:p.Phe161Ile
XM_006719593.2:c.481T>A	XP_006719656.1:p.Phe161Ile
XM_011538731.1:c.400T>A	XP_011537033.1:p.Phe134Ile
XM_006719593.3:c.481T>A	XP_006719656.1:p.Phe161Ile
XM_011538731.2:c.400T>A	XP_011537033.1:p.Phe134Ile
XM_017019961.1:c.265T>A	XP_016875450.1:p.Phe89Ile
XM_017019962.2:c.-870T>A	XP_016875451.1:n.-870T>A
NM_024312.5:c.481T>A MANE Select	NP_077288.2:p.Phe161Ile