Canonical Allele Identifier: CA386304819

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179811C>T (hg19) ; chr12:g.101786033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786033C>T , CM000674.2:g.101786033C>T	GRCh38
NC_000012.11:g.102179811C>T , CM000674.1:g.102179811C>T	GRCh37
NC_000012.10:g.100703942C>T	NCBI36
NG_021243.1:g.49835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.550G>A MANE Select	ENSP00000299314.7:p.Val184Ile
ENST00000299314.11:c.550G>A	ENSP00000299314.7:p.Val184Ile
ENST00000549940.5:c.550G>A	ENSP00000449150.1:p.Val184Ile
ENST00000550352.1:n.344G>A
ENST00000552681.1:c.184G>A	ENSP00000449217.1:p.Val62Ile
NM_024312.4:c.550G>A	NP_077288.2:p.Val184Ile
XM_006719593.2:c.550G>A	XP_006719656.1:p.Val184Ile
XM_011538731.1:c.469G>A	XP_011537033.1:p.Val157Ile
XM_006719593.3:c.550G>A	XP_006719656.1:p.Val184Ile
XM_011538731.2:c.469G>A	XP_011537033.1:p.Val157Ile
XM_017019961.1:c.334G>A	XP_016875450.1:p.Val112Ile
XM_017019962.2:c.-801G>A	XP_016875451.1:n.-801G>A
NM_024312.5:c.550G>A MANE Select	NP_077288.2:p.Val184Ile