Canonical Allele Identifier: CA493026723
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412867T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362866T>A , CM000678.2:g.1362866T>A GRCh38
NC_000016.9:g.1412867T>A , CM000678.1:g.1412867T>A GRCh37
NC_000016.8:g.1352868T>A NCBI36
NG_016985.1:g.15968T>A
NG_033129.1:g.56839A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.882T>A
ENST00000529110.2:c.867T>A ENSP00000435349.2:p.Gly289=
ENST00000529957.6:n.841T>A
ENST00000683366.1:c.*515T>A ENSP00000507283.1:n.*515T>A
ENST00000683887.1:c.831T>A ENSP00000506886.1:p.Gly277=
ENST00000684100.1:n.777T>A
ENST00000684126.1:n.917T>A
ENST00000684688.1:n.1408T>A
ENST00000204679.9:c.783T>A MANE Select ENSP00000204679.4:p.Gly261=
ENST00000204679.8:c.783T>A ENSP00000204679.4:p.Gly261=
ENST00000527076.1:n.2006T>A
ENST00000527168.5:n.950T>A
ENST00000529957.5:n.882T>A
NM_032520.4:c.783T>A NP_115909.1:p.Gly261=
XM_017023782.1:c.831T>A XP_016879271.1:p.Gly277=
XM_017023783.1:c.423T>A XP_016879272.1:p.Gly141=
NM_032520.5:c.783T>A MANE Select NP_115909.1:p.Gly261=