Canonical Allele Identifier: CA2580090422

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1352022G>A , CM000678.2:g.1352022G>A	GRCh38
NC_000016.9:g.1402023G>A , CM000678.1:g.1402023G>A	GRCh37
NC_000016.8:g.1342024G>A	NCBI36
NG_016985.1:g.5124G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.52+5G>A MANE Select	NP_115909.1:n.52+5G>A
ENST00000204679.9:c.52+5G>A MANE Select	ENSP00000204679.4:n.52+5G>A
NM_032520.4:c.52+5G>A	NP_115909.1:n.52+5G>A
ENST00000204679.8:c.52+5G>A	ENSP00000204679.4:n.52+5G>A
ENST00000526820.5:c.52+5G>A	ENSP00000434413.1:n.52+5G>A
ENST00000527137.2:c.52+5G>A	ENSP00000480060.1:n.52+5G>A
ENST00000527168.5:n.64+5G>A
ENST00000527168.6:n.72+5G>A
ENST00000527876.5:c.52+5G>A	ENSP00000460728.1:n.52+5G>A
ENST00000529110.1:c.40G>A
ENST00000529110.2:c.57G>A	ENSP00000435349.2:p.Glu19=
ENST00000529957.5:n.72+5G>A
ENST00000534197.5:n.70+5G>A
ENST00000683366.1:c.52+5G>A	ENSP00000507283.1:n.52+5G>A
ENST00000683887.1:c.52+5G>A	ENSP00000506886.1:n.52+5G>A
XM_017023782.1:c.52+5G>A	XP_016879271.1:n.52+5G>A