Canonical Allele Identifier: CA493026715
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412855A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362854A>G , CM000678.2:g.1362854A>G GRCh38
NC_000016.9:g.1412855A>G , CM000678.1:g.1412855A>G GRCh37
NC_000016.8:g.1352856A>G NCBI36
NG_016985.1:g.15956A>G
NG_033129.1:g.56851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.870A>G
ENST00000529110.2:c.855A>G ENSP00000435349.2:p.Lys285=
ENST00000529957.6:n.829A>G
ENST00000683366.1:c.*503A>G ENSP00000507283.1:n.*503A>G
ENST00000683887.1:c.819A>G ENSP00000506886.1:p.Lys273=
ENST00000684100.1:n.765A>G
ENST00000684126.1:n.905A>G
ENST00000684688.1:n.1396A>G
ENST00000204679.9:c.771A>G MANE Select ENSP00000204679.4:p.Lys257=
ENST00000204679.8:c.771A>G ENSP00000204679.4:p.Lys257=
ENST00000527076.1:n.1994A>G
ENST00000527168.5:n.938A>G
ENST00000529957.5:n.870A>G
NM_032520.4:c.771A>G NP_115909.1:p.Lys257=
XM_017023782.1:c.819A>G XP_016879271.1:p.Lys273=
XM_017023783.1:c.411A>G XP_016879272.1:p.Lys137=
NM_032520.5:c.771A>G MANE Select NP_115909.1:p.Lys257=