Canonical Allele Identifier: CA394188388

Gene: GNPTG

Linked Data

• gnomAD v3: 16-1362616-T-G
• gnomAD v4: 16-1362616-T-G
• MyVariant Identifiers: chr16:g.1412617T>G (hg19) ; chr16:g.1362616T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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