Canonical Allele Identifier: CA493026461

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411924C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361923C>G , CM000678.2:g.1361923C>G	GRCh38
NC_000016.9:g.1411924C>G , CM000678.1:g.1411924C>G	GRCh37
NC_000016.8:g.1351925C>G	NCBI36
NG_016985.1:g.15025C>G
NG_033129.1:g.57782G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.384C>G
ENST00000529110.2:c.369C>G	ENSP00000435349.2:p.Thr123=
ENST00000529957.6:n.343C>G
ENST00000683366.1:c.*17C>G	ENSP00000507283.1:n.*17C>G
ENST00000683887.1:c.333C>G	ENSP00000506886.1:p.Thr111=
ENST00000684100.1:n.279C>G
ENST00000684126.1:n.343C>G
ENST00000684688.1:n.910C>G
ENST00000204679.9:c.285C>G MANE Select	ENSP00000204679.4:p.Thr95=
ENST00000204679.8:c.285C>G	ENSP00000204679.4:p.Thr95=
ENST00000526820.5:c.*187C>G	ENSP00000434413.1:n.*187C>G
ENST00000527076.1:n.1301C>G
ENST00000527168.5:n.321C>G
ENST00000529110.1:c.352C>G
ENST00000529957.5:n.384C>G
NM_032520.4:c.285C>G	NP_115909.1:p.Thr95=
XM_017023782.1:c.333C>G	XP_016879271.1:p.Thr111=
XM_017023783.1:c.-76C>G	XP_016879272.1:n.-76C>G
NM_032520.5:c.285C>G MANE Select	NP_115909.1:p.Thr95=