Canonical Allele Identifier: CA493026458

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411900C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361899C>T , CM000678.2:g.1361899C>T	GRCh38
NC_000016.9:g.1411900C>T , CM000678.1:g.1411900C>T	GRCh37
NC_000016.8:g.1351901C>T	NCBI36
NG_016985.1:g.15001C>T
NG_033129.1:g.57806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.360C>T
ENST00000529110.2:c.345C>T	ENSP00000435349.2:p.His115=
ENST00000529957.6:n.319C>T
ENST00000683366.1:c.206C>T	ENSP00000507283.1:p.Thr69Ile
ENST00000683887.1:c.309C>T	ENSP00000506886.1:p.His103=
ENST00000684100.1:n.255C>T
ENST00000684126.1:n.319C>T
ENST00000684688.1:n.886C>T
ENST00000204679.9:c.261C>T MANE Select	ENSP00000204679.4:p.His87=
ENST00000204679.8:c.261C>T	ENSP00000204679.4:p.His87=
ENST00000526820.5:c.*163C>T	ENSP00000434413.1:n.*163C>T
ENST00000527076.1:n.1277C>T
ENST00000527168.5:n.297C>T
ENST00000529110.1:c.328C>T
ENST00000529957.5:n.360C>T
NM_032520.4:c.261C>T	NP_115909.1:p.His87=
XM_017023782.1:c.309C>T	XP_016879271.1:p.His103=
XM_017023783.1:c.-100C>T	XP_016879272.1:n.-100C>T
NM_032520.5:c.261C>T MANE Select	NP_115909.1:p.His87=