Canonical Allele Identifier: CA7808023

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1363060G>A , CM000678.2:g.1363060G>A	GRCh38
NC_000016.9:g.1413061G>A , CM000678.1:g.1413061G>A	GRCh37
NC_000016.8:g.1353062G>A	NCBI36
NG_016985.1:g.16162G>A
NG_033129.1:g.56645C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.887G>A MANE Select	NP_115909.1:p.Arg296Gln
ENST00000204679.9:c.887G>A MANE Select	ENSP00000204679.4:p.Arg296Gln
NM_032520.4:c.887G>A	NP_115909.1:p.Arg296Gln
ENST00000204679.8:c.887G>A	ENSP00000204679.4:p.Arg296Gln
ENST00000527076.1:n.2110G>A
ENST00000527168.5:n.1054G>A
ENST00000527168.6:n.986G>A
ENST00000529110.2:c.971G>A	ENSP00000435349.2:p.Arg324Gln
ENST00000529957.6:n.945G>A
ENST00000683366.1:c.*619G>A	ENSP00000507283.1:n.*619G>A
ENST00000683887.1:c.935G>A	ENSP00000506886.1:p.Arg312Gln
ENST00000684100.1:n.881G>A
ENST00000684126.1:n.1021G>A
ENST00000684688.1:n.1512G>A
XM_017023782.1:c.935G>A	XP_016879271.1:p.Arg312Gln
XM_017023783.1:c.527G>A	XP_016879272.1:p.Arg176Gln