Canonical Allele Identifier: CA1452097

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231274032A>G , CM000663.2:g.231274032A>G	GRCh38
NC_000001.10:g.231409778A>G , CM000663.1:g.231409778A>G	GRCh37
NC_000001.9:g.229476401A>G	NCBI36
NG_008240.1:g.37860A>G
NG_008240.2:g.37860A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1713A>G MANE Select	NP_055051.1:p.Gly571=
ENST00000366647.9:c.1713A>G MANE Select	ENSP00000355607.4:p.Gly571=
NM_001316350.1:c.1530A>G	NP_001303279.1:p.Gly510=
NM_001316350.2:c.1530A>G	NP_001303279.1:p.Gly510=
NM_014236.3:c.1713A>G	NP_055051.1:p.Gly571=
ENST00000366647.8:c.1713A>G	ENSP00000355607.4:p.Gly571=
ENST00000416000.1:c.1683A>G	ENSP00000411640.1:p.Gly561=
ENST00000644483.1:c.*1399A>G	ENSP00000496537.1:n.*1399A>G
XM_005273313.3:c.1710A>G	XP_005273370.1:p.Gly570=
XM_005273313.4:c.1710A>G	XP_005273370.1:p.Gly570=
XM_011544303.1:c.1386A>G	XP_011542605.1:p.Gly462=
XM_011544303.3:c.1386A>G	XP_011542605.1:p.Gly462=
XM_011544304.1:c.1386A>G	XP_011542606.1:p.Gly462=
XM_011544304.2:c.1386A>G	XP_011542606.1:p.Gly462=