Canonical Allele Identifier: CA386304792

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179799T>G (hg19) ; chr12:g.101786021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786021T>G , CM000674.2:g.101786021T>G	GRCh38
NC_000012.11:g.102179799T>G , CM000674.1:g.102179799T>G	GRCh37
NC_000012.10:g.100703930T>G	NCBI36
NG_021243.1:g.49847A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.562A>C MANE Select	ENSP00000299314.7:p.Thr188Pro
ENST00000299314.11:c.562A>C	ENSP00000299314.7:p.Thr188Pro
ENST00000549940.5:c.562A>C	ENSP00000449150.1:p.Thr188Pro
ENST00000550352.1:n.356A>C
ENST00000552681.1:c.196A>C	ENSP00000449217.1:p.Thr66Pro
NM_024312.4:c.562A>C	NP_077288.2:p.Thr188Pro
XM_006719593.2:c.562A>C	XP_006719656.1:p.Thr188Pro
XM_011538731.1:c.481A>C	XP_011537033.1:p.Thr161Pro
XM_006719593.3:c.562A>C	XP_006719656.1:p.Thr188Pro
XM_011538731.2:c.481A>C	XP_011537033.1:p.Thr161Pro
XM_017019961.1:c.346A>C	XP_016875450.1:p.Thr116Pro
XM_017019962.2:c.-789A>C	XP_016875451.1:n.-789A>C
NM_024312.5:c.562A>C MANE Select	NP_077288.2:p.Thr188Pro