Canonical Allele Identifier: CA493026491
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412224A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362223A>T , CM000678.2:g.1362223A>T GRCh38
NC_000016.9:g.1412224A>T , CM000678.1:g.1412224A>T GRCh37
NC_000016.8:g.1352225A>T NCBI36
NG_016985.1:g.15325A>T
NG_033129.1:g.57482T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.528A>T
ENST00000529110.2:c.513A>T ENSP00000435349.2:p.Gly171=
ENST00000529957.6:n.487A>T
ENST00000683366.1:c.*161A>T ENSP00000507283.1:n.*161A>T
ENST00000683887.1:c.477A>T ENSP00000506886.1:p.Gly159=
ENST00000684100.1:n.423A>T
ENST00000684126.1:n.487A>T
ENST00000684688.1:n.1054A>T
ENST00000204679.9:c.429A>T MANE Select ENSP00000204679.4:p.Gly143=
ENST00000204679.8:c.429A>T ENSP00000204679.4:p.Gly143=
ENST00000527076.1:n.1445A>T
ENST00000527168.5:n.465A>T
ENST00000529110.1:c.496A>T
ENST00000529957.5:n.528A>T
NM_032520.4:c.429A>T NP_115909.1:p.Gly143=
XM_017023782.1:c.477A>T XP_016879271.1:p.Gly159=
XM_017023783.1:c.69A>T XP_016879272.1:p.Gly23=
NM_032520.5:c.429A>T MANE Select NP_115909.1:p.Gly143=