Canonical Allele Identifier: CA394187810

Gene: GNPTG

Linked Data

• dbSNP Id: rs2141862990
• MyVariant Identifiers: chr16:g.1412260C>G (hg19) ; chr16:g.1362259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362259C>G , CM000678.2:g.1362259C>G	GRCh38
NC_000016.9:g.1412260C>G , CM000678.1:g.1412260C>G	GRCh37
NC_000016.8:g.1352261C>G	NCBI36
NG_016985.1:g.15361C>G
NG_033129.1:g.57446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.564C>G
ENST00000529110.2:c.549C>G	ENSP00000435349.2:p.Ser183Arg
ENST00000529957.6:n.523C>G
ENST00000683366.1:c.*197C>G	ENSP00000507283.1:n.*197C>G
ENST00000683887.1:c.513C>G	ENSP00000506886.1:p.Ser171Arg
ENST00000684100.1:n.459C>G
ENST00000684126.1:n.523C>G
ENST00000684688.1:n.1090C>G
ENST00000204679.9:c.465C>G MANE Select	ENSP00000204679.4:p.Ser155Arg
ENST00000204679.8:c.465C>G	ENSP00000204679.4:p.Ser155Arg
ENST00000527076.1:n.1481C>G
ENST00000527168.5:n.501C>G
ENST00000529110.1:c.532C>G
ENST00000529957.5:n.564C>G
NM_032520.4:c.465C>G	NP_115909.1:p.Ser155Arg
XM_017023782.1:c.513C>G	XP_016879271.1:p.Ser171Arg
XM_017023783.1:c.105C>G	XP_016879272.1:p.Ser35Arg
NM_032520.5:c.465C>G MANE Select	NP_115909.1:p.Ser155Arg