Canonical Allele Identifier: CA493026704

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362833-A-G
• MyVariant Identifiers: chr16:g.1412834A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362833A>G , CM000678.2:g.1362833A>G	GRCh38
NC_000016.9:g.1412834A>G , CM000678.1:g.1412834A>G	GRCh37
NC_000016.8:g.1352835A>G	NCBI36
NG_016985.1:g.15935A>G
NG_033129.1:g.56872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.849A>G
ENST00000529110.2:c.834A>G	ENSP00000435349.2:p.Lys278=
ENST00000529957.6:n.808A>G
ENST00000683366.1:c.*482A>G	ENSP00000507283.1:n.*482A>G
ENST00000683887.1:c.798A>G	ENSP00000506886.1:p.Lys266=
ENST00000684100.1:n.744A>G
ENST00000684126.1:n.884A>G
ENST00000684688.1:n.1375A>G
ENST00000204679.9:c.750A>G MANE Select	ENSP00000204679.4:p.Lys250=
ENST00000204679.8:c.750A>G	ENSP00000204679.4:p.Lys250=
ENST00000527076.1:n.1973A>G
ENST00000527168.5:n.917A>G
ENST00000529957.5:n.849A>G
NM_032520.4:c.750A>G	NP_115909.1:p.Lys250=
XM_017023782.1:c.798A>G	XP_016879271.1:p.Lys266=
XM_017023783.1:c.390A>G	XP_016879272.1:p.Lys130=
NM_032520.5:c.750A>G MANE Select	NP_115909.1:p.Lys250=