Canonical Allele Identifier: CA493026514

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2884133
• ClinVar RCV Id: RCV003724266
• MyVariant Identifiers: chr16:g.1412251C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362250C>A , CM000678.2:g.1362250C>A	GRCh38
NC_000016.9:g.1412251C>A , CM000678.1:g.1412251C>A	GRCh37
NC_000016.8:g.1352252C>A	NCBI36
NG_016985.1:g.15352C>A
NG_033129.1:g.57455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.555C>A
ENST00000529110.2:c.540C>A	ENSP00000435349.2:p.Ser180=
ENST00000529957.6:n.514C>A
ENST00000683366.1:c.*188C>A	ENSP00000507283.1:n.*188C>A
ENST00000683887.1:c.504C>A	ENSP00000506886.1:p.Ser168=
ENST00000684100.1:n.450C>A
ENST00000684126.1:n.514C>A
ENST00000684688.1:n.1081C>A
ENST00000204679.9:c.456C>A MANE Select	ENSP00000204679.4:p.Ser152=
ENST00000204679.8:c.456C>A	ENSP00000204679.4:p.Ser152=
ENST00000527076.1:n.1472C>A
ENST00000527168.5:n.492C>A
ENST00000529110.1:c.523C>A
ENST00000529957.5:n.555C>A
NM_032520.4:c.456C>A	NP_115909.1:p.Ser152=
XM_017023782.1:c.504C>A	XP_016879271.1:p.Ser168=
XM_017023783.1:c.96C>A	XP_016879272.1:p.Ser32=
NM_032520.5:c.456C>A MANE Select	NP_115909.1:p.Ser152=