Canonical Allele Identifier: CA394186674

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361799T>A , CM000678.2:g.1361799T>A	GRCh38
NC_000016.9:g.1411800T>A , CM000678.1:g.1411800T>A	GRCh37
NC_000016.8:g.1351801T>A	NCBI36
NG_016985.1:g.14901T>A
NG_033129.1:g.57906A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.233+2T>A MANE Select	NP_115909.1:n.233+2T>A
ENST00000204679.9:c.233+2T>A MANE Select	ENSP00000204679.4:n.233+2T>A
NM_032520.4:c.233+2T>A	NP_115909.1:n.233+2T>A
ENST00000204679.8:c.233+2T>A	ENSP00000204679.4:n.233+2T>A
ENST00000526820.5:c.*135+2T>A	ENSP00000434413.1:n.*135+2T>A
ENST00000527076.1:n.1177T>A
ENST00000527168.5:n.270-73T>A
ENST00000527168.6:n.332+2T>A
ENST00000529110.1:c.300+2T>A
ENST00000529110.2:c.317+2T>A	ENSP00000435349.2:n.317+2T>A
ENST00000529957.5:n.332+2T>A
ENST00000529957.6:n.291+2T>A
ENST00000683366.1:c.179-73T>A	ENSP00000507283.1:n.179-73T>A
ENST00000683887.1:c.281+2T>A	ENSP00000506886.1:n.281+2T>A
ENST00000684100.1:n.155T>A
ENST00000684126.1:n.291+2T>A
ENST00000684688.1:n.858+2T>A
XM_017023782.1:c.281+2T>A	XP_016879271.1:n.281+2T>A
XM_017023783.1:c.-128+2T>A	XP_016879272.1:n.-128+2T>A