Canonical Allele Identifier: CA394188694

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412841T>A (hg19) ; chr16:g.1362840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362840T>A , CM000678.2:g.1362840T>A	GRCh38
NC_000016.9:g.1412841T>A , CM000678.1:g.1412841T>A	GRCh37
NC_000016.8:g.1352842T>A	NCBI36
NG_016985.1:g.15942T>A
NG_033129.1:g.56865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.856T>A
ENST00000529110.2:c.841T>A	ENSP00000435349.2:p.Ser281Thr
ENST00000529957.6:n.815T>A
ENST00000683366.1:c.*489T>A	ENSP00000507283.1:n.*489T>A
ENST00000683887.1:c.805T>A	ENSP00000506886.1:p.Ser269Thr
ENST00000684100.1:n.751T>A
ENST00000684126.1:n.891T>A
ENST00000684688.1:n.1382T>A
ENST00000204679.9:c.757T>A MANE Select	ENSP00000204679.4:p.Ser253Thr
ENST00000204679.8:c.757T>A	ENSP00000204679.4:p.Ser253Thr
ENST00000527076.1:n.1980T>A
ENST00000527168.5:n.924T>A
ENST00000529957.5:n.856T>A
NM_032520.4:c.757T>A	NP_115909.1:p.Ser253Thr
XM_017023782.1:c.805T>A	XP_016879271.1:p.Ser269Thr
XM_017023783.1:c.397T>A	XP_016879272.1:p.Ser133Thr
NM_032520.5:c.757T>A MANE Select	NP_115909.1:p.Ser253Thr