Canonical Allele Identifier: CA2838620016

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361817G>T , CM000678.2:g.1361817G>T	GRCh38
NC_000016.9:g.1411818G>T , CM000678.1:g.1411818G>T	GRCh37
NC_000016.8:g.1351819G>T	NCBI36
NG_016985.1:g.14919G>T
NG_033129.1:g.57888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+20G>T
ENST00000529110.2:c.317+20G>T	ENSP00000435349.2:n.317+20G>T
ENST00000529957.6:n.291+20G>T
ENST00000683366.1:c.179-55G>T	ENSP00000507283.1:n.179-55G>T
ENST00000683887.1:c.281+20G>T	ENSP00000506886.1:n.281+20G>T
ENST00000684100.1:n.173G>T
ENST00000684126.1:n.291+20G>T
ENST00000684688.1:n.858+20G>T
ENST00000204679.9:c.233+20G>T MANE Select	ENSP00000204679.4:n.233+20G>T
ENST00000204679.8:c.233+20G>T	ENSP00000204679.4:n.233+20G>T
ENST00000526820.5:c.*135+20G>T	ENSP00000434413.1:n.*135+20G>T
ENST00000527076.1:n.1195G>T
ENST00000527168.5:n.270-55G>T
ENST00000529110.1:c.300+20G>T
ENST00000529957.5:n.332+20G>T
NM_032520.4:c.233+20G>T	NP_115909.1:n.233+20G>T
XM_017023782.1:c.281+20G>T	XP_016879271.1:n.281+20G>T
XM_017023783.1:c.-128+20G>T	XP_016879272.1:n.-128+20G>T
NM_032520.5:c.233+20G>T MANE Select	NP_115909.1:n.233+20G>T