Canonical Allele Identifier: CA394184231

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352160G>A , CM000678.2:g.1352160G>A	GRCh38
NC_000016.9:g.1402161G>A , CM000678.1:g.1402161G>A	GRCh37
NC_000016.8:g.1342162G>A	NCBI36
NG_016985.1:g.5262G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.110+1G>A MANE Select	NP_115909.1:n.110+1G>A
ENST00000204679.9:c.110+1G>A MANE Select	ENSP00000204679.4:n.110+1G>A
NM_032520.4:c.110+1G>A	NP_115909.1:n.110+1G>A
ENST00000204679.8:c.110+1G>A	ENSP00000204679.4:n.110+1G>A
ENST00000526820.5:c.110+1G>A	ENSP00000434413.1:n.110+1G>A
ENST00000527137.2:c.110+1G>A	ENSP00000480060.1:n.110+1G>A
ENST00000527168.5:n.123G>A
ENST00000527168.6:n.131G>A
ENST00000527876.5:c.110+1G>A	ENSP00000460728.1:n.110+1G>A
ENST00000529110.1:c.177+1G>A
ENST00000529110.2:c.194+1G>A	ENSP00000435349.2:n.194+1G>A
ENST00000529957.5:n.131G>A
ENST00000529957.6:n.90G>A
ENST00000534197.5:n.129G>A
ENST00000683366.1:c.110+1G>A	ENSP00000507283.1:n.110+1G>A
ENST00000683887.1:c.110+1G>A	ENSP00000506886.1:n.110+1G>A
ENST00000684126.1:n.90G>A
XM_017023782.1:c.110+1G>A	XP_016879271.1:n.110+1G>A