Canonical Allele Identifier: CA394188387

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 998513
• ClinVar RCV Id: RCV001294376
• dbSNP Id: rs2034924651
• MyVariant Identifiers: chr16:g.1412617T>A (hg19) ; chr16:g.1362616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362616T>A , CM000678.2:g.1362616T>A	GRCh38
NC_000016.9:g.1412617T>A , CM000678.1:g.1412617T>A	GRCh37
NC_000016.8:g.1352618T>A	NCBI36
NG_016985.1:g.15718T>A
NG_033129.1:g.57089A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.714T>A
ENST00000529110.2:c.699T>A	ENSP00000435349.2:p.His233Gln
ENST00000529957.6:n.673T>A
ENST00000683366.1:c.*347T>A	ENSP00000507283.1:n.*347T>A
ENST00000683887.1:c.663T>A	ENSP00000506886.1:p.His221Gln
ENST00000684100.1:n.609T>A
ENST00000684126.1:n.749T>A
ENST00000684688.1:n.1240T>A
ENST00000204679.9:c.615T>A MANE Select	ENSP00000204679.4:p.His205Gln
ENST00000204679.8:c.615T>A	ENSP00000204679.4:p.His205Gln
ENST00000527076.1:n.1838T>A
ENST00000527168.5:n.782T>A
ENST00000529957.5:n.714T>A
NM_032520.4:c.615T>A	NP_115909.1:p.His205Gln
XM_017023782.1:c.663T>A	XP_016879271.1:p.His221Gln
XM_017023783.1:c.255T>A	XP_016879272.1:p.His85Gln
NM_032520.5:c.615T>A MANE Select	NP_115909.1:p.His205Gln