Canonical Allele Identifier: CA493026681

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412650T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362649T>C , CM000678.2:g.1362649T>C	GRCh38
NC_000016.9:g.1412650T>C , CM000678.1:g.1412650T>C	GRCh37
NC_000016.8:g.1352651T>C	NCBI36
NG_016985.1:g.15751T>C
NG_033129.1:g.57056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.747T>C
ENST00000529110.2:c.732T>C	ENSP00000435349.2:p.Ala244=
ENST00000529957.6:n.706T>C
ENST00000683366.1:c.*380T>C	ENSP00000507283.1:n.*380T>C
ENST00000683887.1:c.696T>C	ENSP00000506886.1:p.Ala232=
ENST00000684100.1:n.642T>C
ENST00000684126.1:n.782T>C
ENST00000684688.1:n.1273T>C
ENST00000204679.9:c.648T>C MANE Select	ENSP00000204679.4:p.Ala216=
ENST00000204679.8:c.648T>C	ENSP00000204679.4:p.Ala216=
ENST00000527076.1:n.1871T>C
ENST00000527168.5:n.815T>C
ENST00000529957.5:n.747T>C
NM_032520.4:c.648T>C	NP_115909.1:p.Ala216=
XM_017023782.1:c.696T>C	XP_016879271.1:p.Ala232=
XM_017023783.1:c.288T>C	XP_016879272.1:p.Ala96=
NM_032520.5:c.648T>C MANE Select	NP_115909.1:p.Ala216=