Canonical Allele Identifier: CA493026343

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411763A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361762A>G , CM000678.2:g.1361762A>G	GRCh38
NC_000016.9:g.1411763A>G , CM000678.1:g.1411763A>G	GRCh37
NC_000016.8:g.1351764A>G	NCBI36
NG_016985.1:g.14864A>G
NG_033129.1:g.57943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.297A>G
ENST00000529110.2:c.282A>G	ENSP00000435349.2:p.Arg94=
ENST00000529957.6:n.256A>G
ENST00000683366.1:c.179-110A>G	ENSP00000507283.1:n.179-110A>G
ENST00000683887.1:c.246A>G	ENSP00000506886.1:p.Arg82=
ENST00000684100.1:n.118A>G
ENST00000684126.1:n.256A>G
ENST00000684688.1:n.823A>G
ENST00000204679.9:c.198A>G MANE Select	ENSP00000204679.4:p.Arg66=
ENST00000204679.8:c.198A>G	ENSP00000204679.4:p.Arg66=
ENST00000526820.5:c.*100A>G	ENSP00000434413.1:n.*100A>G
ENST00000527076.1:n.1140A>G
ENST00000527168.5:n.270-110A>G
ENST00000529110.1:c.265A>G
ENST00000529957.5:n.297A>G
NM_032520.4:c.198A>G	NP_115909.1:p.Arg66=
XM_017023782.1:c.246A>G	XP_016879271.1:p.Arg82=
XM_017023783.1:c.-163A>G	XP_016879272.1:n.-163A>G
NM_032520.5:c.198A>G MANE Select	NP_115909.1:p.Arg66=