Canonical Allele Identifier: CA394187034

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411945T>G (hg19) ; chr16:g.1361944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361944T>G , CM000678.2:g.1361944T>G	GRCh38
NC_000016.9:g.1411945T>G , CM000678.1:g.1411945T>G	GRCh37
NC_000016.8:g.1351946T>G	NCBI36
NG_016985.1:g.15046T>G
NG_033129.1:g.57761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.405T>G
ENST00000529110.2:c.390T>G	ENSP00000435349.2:p.Ser130Arg
ENST00000529957.6:n.364T>G
ENST00000683366.1:c.*38T>G	ENSP00000507283.1:n.*38T>G
ENST00000683887.1:c.354T>G	ENSP00000506886.1:p.Ser118Arg
ENST00000684100.1:n.300T>G
ENST00000684126.1:n.364T>G
ENST00000684688.1:n.931T>G
ENST00000204679.9:c.306T>G MANE Select	ENSP00000204679.4:p.Ser102Arg
ENST00000204679.8:c.306T>G	ENSP00000204679.4:p.Ser102Arg
ENST00000526820.5:c.*208T>G	ENSP00000434413.1:n.*208T>G
ENST00000527076.1:n.1322T>G
ENST00000527168.5:n.342T>G
ENST00000529110.1:c.373T>G
ENST00000529957.5:n.405T>G
NM_032520.4:c.306T>G	NP_115909.1:p.Ser102Arg
XM_017023782.1:c.354T>G	XP_016879271.1:p.Ser118Arg
XM_017023783.1:c.-55T>G	XP_016879272.1:n.-55T>G
NM_032520.5:c.306T>G MANE Select	NP_115909.1:p.Ser102Arg