Canonical Allele Identifier: CA394188823

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185600
• gnomAD v4: 16-1362904-C-T
• MyVariant Identifiers: chr16:g.1412905C>T (hg19) ; chr16:g.1362904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362904C>T , CM000678.2:g.1362904C>T	GRCh38
NC_000016.9:g.1412905C>T , CM000678.1:g.1412905C>T	GRCh37
NC_000016.8:g.1352906C>T	NCBI36
NG_016985.1:g.16006C>T
NG_033129.1:g.56801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.920C>T
ENST00000529110.2:c.905C>T	ENSP00000435349.2:p.Thr302Ile
ENST00000529957.6:n.879C>T
ENST00000683366.1:c.*553C>T	ENSP00000507283.1:n.*553C>T
ENST00000683887.1:c.869C>T	ENSP00000506886.1:p.Thr290Ile
ENST00000684100.1:n.815C>T
ENST00000684126.1:n.955C>T
ENST00000684688.1:n.1446C>T
ENST00000204679.9:c.821C>T MANE Select	ENSP00000204679.4:p.Thr274Ile
ENST00000204679.8:c.821C>T	ENSP00000204679.4:p.Thr274Ile
ENST00000527076.1:n.2044C>T
ENST00000527168.5:n.988C>T
ENST00000529957.5:n.920C>T
NM_032520.4:c.821C>T	NP_115909.1:p.Thr274Ile
XM_017023782.1:c.869C>T	XP_016879271.1:p.Thr290Ile
XM_017023783.1:c.461C>T	XP_016879272.1:p.Thr154Ile
NM_032520.5:c.821C>T MANE Select	NP_115909.1:p.Thr274Ile