Canonical Allele Identifier: CA493026509
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412039C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362038C>A , CM000678.2:g.1362038C>A GRCh38
NC_000016.9:g.1412039C>A , CM000678.1:g.1412039C>A GRCh37
NC_000016.8:g.1352040C>A NCBI36
NG_016985.1:g.15140C>A
NG_033129.1:g.57667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.417C>A
ENST00000529110.2:c.402C>A ENSP00000435349.2:p.Gly134=
ENST00000529957.6:n.376C>A
ENST00000683366.1:c.*50C>A ENSP00000507283.1:n.*50C>A
ENST00000683887.1:c.366C>A ENSP00000506886.1:p.Gly122=
ENST00000684100.1:n.312C>A
ENST00000684126.1:n.376C>A
ENST00000684688.1:n.943C>A
ENST00000204679.9:c.318C>A MANE Select ENSP00000204679.4:p.Gly106=
ENST00000204679.8:c.318C>A ENSP00000204679.4:p.Gly106=
ENST00000526820.5:c.*220C>A ENSP00000434413.1:n.*220C>A
ENST00000527076.1:n.1334C>A
ENST00000527168.5:n.354C>A
ENST00000529110.1:c.385C>A
ENST00000529957.5:n.417C>A
NM_032520.4:c.318C>A NP_115909.1:p.Gly106=
XM_017023782.1:c.366C>A XP_016879271.1:p.Gly122=
XM_017023783.1:c.-43C>A XP_016879272.1:n.-43C>A
NM_032520.5:c.318C>A MANE Select NP_115909.1:p.Gly106=