Canonical Allele Identifier: CA493026469

Gene: GNPTG

Linked Data

• dbSNP Id: rs543804571
• MyVariant Identifiers: chr16:g.1411909C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361908C>G , CM000678.2:g.1361908C>G	GRCh38
NC_000016.9:g.1411909C>G , CM000678.1:g.1411909C>G	GRCh37
NC_000016.8:g.1351910C>G	NCBI36
NG_016985.1:g.15010C>G
NG_033129.1:g.57797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.369C>G
ENST00000529110.2:c.354C>G	ENSP00000435349.2:p.Thr118=
ENST00000529957.6:n.328C>G
ENST00000683366.1:c.*2C>G	ENSP00000507283.1:n.*2C>G
ENST00000683887.1:c.318C>G	ENSP00000506886.1:p.Thr106=
ENST00000684100.1:n.264C>G
ENST00000684126.1:n.328C>G
ENST00000684688.1:n.895C>G
ENST00000204679.9:c.270C>G MANE Select	ENSP00000204679.4:p.Thr90=
ENST00000204679.8:c.270C>G	ENSP00000204679.4:p.Thr90=
ENST00000526820.5:c.*172C>G	ENSP00000434413.1:n.*172C>G
ENST00000527076.1:n.1286C>G
ENST00000527168.5:n.306C>G
ENST00000529110.1:c.337C>G
ENST00000529957.5:n.369C>G
NM_032520.4:c.270C>G	NP_115909.1:p.Thr90=
XM_017023782.1:c.318C>G	XP_016879271.1:p.Thr106=
XM_017023783.1:c.-91C>G	XP_016879272.1:n.-91C>G
NM_032520.5:c.270C>G MANE Select	NP_115909.1:p.Thr90=