Canonical Allele Identifier: CA2843597192

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361821G>T , CM000678.2:g.1361821G>T	GRCh38
NC_000016.9:g.1411822G>T , CM000678.1:g.1411822G>T	GRCh37
NC_000016.8:g.1351823G>T	NCBI36
NG_016985.1:g.14923G>T
NG_033129.1:g.57884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+24G>T
ENST00000529110.2:c.317+24G>T	ENSP00000435349.2:n.317+24G>T
ENST00000529957.6:n.291+24G>T
ENST00000683366.1:c.179-51G>T	ENSP00000507283.1:n.179-51G>T
ENST00000683887.1:c.281+24G>T	ENSP00000506886.1:n.281+24G>T
ENST00000684100.1:n.177G>T
ENST00000684126.1:n.291+24G>T
ENST00000684688.1:n.858+24G>T
ENST00000204679.9:c.233+24G>T MANE Select	ENSP00000204679.4:n.233+24G>T
ENST00000204679.8:c.233+24G>T	ENSP00000204679.4:n.233+24G>T
ENST00000526820.5:c.*135+24G>T	ENSP00000434413.1:n.*135+24G>T
ENST00000527076.1:n.1199G>T
ENST00000527168.5:n.270-51G>T
ENST00000529110.1:c.300+24G>T
ENST00000529957.5:n.332+24G>T
NM_032520.4:c.233+24G>T	NP_115909.1:n.233+24G>T
XM_017023782.1:c.281+24G>T	XP_016879271.1:n.281+24G>T
XM_017023783.1:c.-128+24G>T	XP_016879272.1:n.-128+24G>T
NM_032520.5:c.233+24G>T MANE Select	NP_115909.1:n.233+24G>T