Canonical Allele Identifier: CA394187948

Gene: GNPTG

Linked Data

• dbSNP Id: rs770954803
• MyVariant Identifiers: chr16:g.1412313C>G (hg19) ; chr16:g.1362312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362312C>G , CM000678.2:g.1362312C>G	GRCh38
NC_000016.9:g.1412313C>G , CM000678.1:g.1412313C>G	GRCh37
NC_000016.8:g.1352314C>G	NCBI36
NG_016985.1:g.15414C>G
NG_033129.1:g.57393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.617C>G
ENST00000529110.2:c.602C>G	ENSP00000435349.2:p.Ala201Gly
ENST00000529957.6:n.576C>G
ENST00000683366.1:c.*250C>G	ENSP00000507283.1:n.*250C>G
ENST00000683887.1:c.566C>G	ENSP00000506886.1:p.Ala189Gly
ENST00000684100.1:n.512C>G
ENST00000684126.1:n.576C>G
ENST00000684688.1:n.1143C>G
ENST00000204679.9:c.518C>G MANE Select	ENSP00000204679.4:p.Ala173Gly
ENST00000204679.8:c.518C>G	ENSP00000204679.4:p.Ala173Gly
ENST00000527076.1:n.1534C>G
ENST00000527168.5:n.554C>G
ENST00000529957.5:n.617C>G
NM_032520.4:c.518C>G	NP_115909.1:p.Ala173Gly
XM_017023782.1:c.566C>G	XP_016879271.1:p.Ala189Gly
XM_017023783.1:c.158C>G	XP_016879272.1:p.Ala53Gly
NM_032520.5:c.518C>G MANE Select	NP_115909.1:p.Ala173Gly