Canonical Allele Identifier: CA493026515

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2695870
• ClinVar RCV Id: RCV003542710
• gnomAD v4: 16-1362253-G-A
• MyVariant Identifiers: chr16:g.1412254G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362253G>A , CM000678.2:g.1362253G>A	GRCh38
NC_000016.9:g.1412254G>A , CM000678.1:g.1412254G>A	GRCh37
NC_000016.8:g.1352255G>A	NCBI36
NG_016985.1:g.15355G>A
NG_033129.1:g.57452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.558G>A
ENST00000529110.2:c.543G>A	ENSP00000435349.2:p.Glu181=
ENST00000529957.6:n.517G>A
ENST00000683366.1:c.*191G>A	ENSP00000507283.1:n.*191G>A
ENST00000683887.1:c.507G>A	ENSP00000506886.1:p.Glu169=
ENST00000684100.1:n.453G>A
ENST00000684126.1:n.517G>A
ENST00000684688.1:n.1084G>A
ENST00000204679.9:c.459G>A MANE Select	ENSP00000204679.4:p.Glu153=
ENST00000204679.8:c.459G>A	ENSP00000204679.4:p.Glu153=
ENST00000527076.1:n.1475G>A
ENST00000527168.5:n.495G>A
ENST00000529110.1:c.526G>A
ENST00000529957.5:n.558G>A
NM_032520.4:c.459G>A	NP_115909.1:p.Glu153=
XM_017023782.1:c.507G>A	XP_016879271.1:p.Glu169=
XM_017023783.1:c.99G>A	XP_016879272.1:p.Glu33=
NM_032520.5:c.459G>A MANE Select	NP_115909.1:p.Glu153=