Canonical Allele Identifier: CA1451943

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231266383G>A , CM000663.2:g.231266383G>A	GRCh38
NC_000001.10:g.231402129G>A , CM000663.1:g.231402129G>A	GRCh37
NC_000001.9:g.229468752G>A	NCBI36
NG_008240.1:g.30211G>A
NG_008240.2:g.30211G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1031G>A MANE Select	NP_055051.1:p.Arg344Gln
ENST00000366647.9:c.1031G>A MANE Select	ENSP00000355607.4:p.Arg344Gln
NM_001316350.1:c.848G>A	NP_001303279.1:p.Arg283Gln
NM_001316350.2:c.848G>A	NP_001303279.1:p.Arg283Gln
NM_014236.3:c.1031G>A	NP_055051.1:p.Arg344Gln
ENST00000366647.8:c.1031G>A	ENSP00000355607.4:p.Arg344Gln
ENST00000416000.1:c.1001G>A	ENSP00000411640.1:p.Arg334Gln
ENST00000492459.1:n.139G>A
ENST00000644483.1:c.*717G>A	ENSP00000496537.1:n.*717G>A
XM_005273313.3:c.1028G>A	XP_005273370.1:p.Arg343Gln
XM_005273313.4:c.1028G>A	XP_005273370.1:p.Arg343Gln
XM_011544303.1:c.704G>A	XP_011542605.1:p.Arg235Gln
XM_011544303.3:c.704G>A	XP_011542605.1:p.Arg235Gln
XM_011544304.1:c.704G>A	XP_011542606.1:p.Arg235Gln
XM_011544304.2:c.704G>A	XP_011542606.1:p.Arg235Gln