Canonical Allele Identifier: CA394188746

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412866G>A (hg19) ; chr16:g.1362865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362865G>A , CM000678.2:g.1362865G>A	GRCh38
NC_000016.9:g.1412866G>A , CM000678.1:g.1412866G>A	GRCh37
NC_000016.8:g.1352867G>A	NCBI36
NG_016985.1:g.15967G>A
NG_033129.1:g.56840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.881G>A
ENST00000529110.2:c.866G>A	ENSP00000435349.2:p.Gly289Asp
ENST00000529957.6:n.840G>A
ENST00000683366.1:c.*514G>A	ENSP00000507283.1:n.*514G>A
ENST00000683887.1:c.830G>A	ENSP00000506886.1:p.Gly277Asp
ENST00000684100.1:n.776G>A
ENST00000684126.1:n.916G>A
ENST00000684688.1:n.1407G>A
ENST00000204679.9:c.782G>A MANE Select	ENSP00000204679.4:p.Gly261Asp
ENST00000204679.8:c.782G>A	ENSP00000204679.4:p.Gly261Asp
ENST00000527076.1:n.2005G>A
ENST00000527168.5:n.949G>A
ENST00000529957.5:n.881G>A
NM_032520.4:c.782G>A	NP_115909.1:p.Gly261Asp
XM_017023782.1:c.830G>A	XP_016879271.1:p.Gly277Asp
XM_017023783.1:c.422G>A	XP_016879272.1:p.Gly141Asp
NM_032520.5:c.782G>A MANE Select	NP_115909.1:p.Gly261Asp