Canonical Allele Identifier: CA493026646

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362619-G-A
• MyVariant Identifiers: chr16:g.1412620G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362619G>A , CM000678.2:g.1362619G>A	GRCh38
NC_000016.9:g.1412620G>A , CM000678.1:g.1412620G>A	GRCh37
NC_000016.8:g.1352621G>A	NCBI36
NG_016985.1:g.15721G>A
NG_033129.1:g.57086C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.717G>A
ENST00000529110.2:c.702G>A	ENSP00000435349.2:p.Glu234=
ENST00000529957.6:n.676G>A
ENST00000683366.1:c.*350G>A	ENSP00000507283.1:n.*350G>A
ENST00000683887.1:c.666G>A	ENSP00000506886.1:p.Glu222=
ENST00000684100.1:n.612G>A
ENST00000684126.1:n.752G>A
ENST00000684688.1:n.1243G>A
ENST00000204679.9:c.618G>A MANE Select	ENSP00000204679.4:p.Glu206=
ENST00000204679.8:c.618G>A	ENSP00000204679.4:p.Glu206=
ENST00000527076.1:n.1841G>A
ENST00000527168.5:n.785G>A
ENST00000529957.5:n.717G>A
NM_032520.4:c.618G>A	NP_115909.1:p.Glu206=
XM_017023782.1:c.666G>A	XP_016879271.1:p.Glu222=
XM_017023783.1:c.258G>A	XP_016879272.1:p.Glu86=
NM_032520.5:c.618G>A MANE Select	NP_115909.1:p.Glu206=