Canonical Allele Identifier: CA284847

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362689C>G , CM000678.2:g.1362689C>G	GRCh38
NC_000016.9:g.1412690C>G , CM000678.1:g.1412690C>G	GRCh37
NC_000016.8:g.1352691C>G	NCBI36
NG_016985.1:g.15791C>G
NG_033129.1:g.57016G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.688C>G MANE Select	NP_115909.1:p.Leu230Val
ENST00000204679.9:c.688C>G MANE Select	ENSP00000204679.4:p.Leu230Val
NM_032520.4:c.688C>G	NP_115909.1:p.Leu230Val
ENST00000204679.8:c.688C>G	ENSP00000204679.4:p.Leu230Val
ENST00000527076.1:n.1911C>G
ENST00000527168.5:n.855C>G
ENST00000527168.6:n.787C>G
ENST00000529110.2:c.772C>G	ENSP00000435349.2:p.Leu258Val
ENST00000529957.5:n.787C>G
ENST00000529957.6:n.746C>G
ENST00000683366.1:c.*420C>G	ENSP00000507283.1:n.*420C>G
ENST00000683887.1:c.736C>G	ENSP00000506886.1:p.Leu246Val
ENST00000684100.1:n.682C>G
ENST00000684126.1:n.822C>G
ENST00000684688.1:n.1313C>G
XM_017023782.1:c.736C>G	XP_016879271.1:p.Leu246Val
XM_017023783.1:c.328C>G	XP_016879272.1:p.Leu110Val