Canonical Allele Identifier: CA129915

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231272345A>G , CM000663.2:g.231272345A>G	GRCh38
NC_000001.10:g.231408091A>G , CM000663.1:g.231408091A>G	GRCh37
NC_000001.9:g.229474714A>G	NCBI36
NG_008240.1:g.36173A>G
NG_008240.2:g.36173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1556A>G MANE Select	ENSP00000355607.4:p.Asp519Gly
ENST00000644483.1:c.*1242A>G	ENSP00000496537.1:n.*1242A>G
ENST00000366647.8:c.1556A>G	ENSP00000355607.4:p.Asp519Gly
ENST00000416000.1:c.1526A>G	ENSP00000411640.1:p.Asp509Gly
NM_001316350.1:c.1373A>G	NP_001303279.1:p.Asp458Gly
NM_014236.3:c.1556A>G	NP_055051.1:p.Asp519Gly
XM_005273313.3:c.1553A>G	XP_005273370.1:p.Asp518Gly
XM_011544303.1:c.1229A>G	XP_011542605.1:p.Asp410Gly
XM_011544304.1:c.1229A>G	XP_011542606.1:p.Asp410Gly
XM_005273313.4:c.1553A>G	XP_005273370.1:p.Asp518Gly
XM_011544303.3:c.1229A>G	XP_011542605.1:p.Asp410Gly
XM_011544304.2:c.1229A>G	XP_011542606.1:p.Asp410Gly
NM_014236.4:c.1556A>G MANE Select	NP_055051.1:p.Asp519Gly
NM_001316350.2:c.1373A>G	NP_001303279.1:p.Asp458Gly