Canonical Allele Identifier: CA423903377

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231270906C>T , CM000663.2:g.231270906C>T	GRCh38
NC_000001.10:g.231406652C>T , CM000663.1:g.231406652C>T	GRCh37
NC_000001.9:g.229473275C>T	NCBI36
NG_008240.1:g.34734C>T
NG_008240.2:g.34734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1428C>T MANE Select	NP_055051.1:p.Leu476=
ENST00000366647.9:c.1428C>T MANE Select	ENSP00000355607.4:p.Leu476=
NM_001316350.1:c.1245C>T	NP_001303279.1:p.Leu415=
NM_001316350.2:c.1245C>T	NP_001303279.1:p.Leu415=
NM_014236.3:c.1428C>T	NP_055051.1:p.Leu476=
ENST00000366647.8:c.1428C>T	ENSP00000355607.4:p.Leu476=
ENST00000416000.1:c.1398C>T	ENSP00000411640.1:p.Leu466=
ENST00000644483.1:c.*1114C>T	ENSP00000496537.1:n.*1114C>T
XM_005273313.3:c.1425C>T	XP_005273370.1:p.Leu475=
XM_005273313.4:c.1425C>T	XP_005273370.1:p.Leu475=
XM_011544303.1:c.1101C>T	XP_011542605.1:p.Leu367=
XM_011544303.3:c.1101C>T	XP_011542605.1:p.Leu367=
XM_011544304.1:c.1101C>T	XP_011542606.1:p.Leu367=
XM_011544304.2:c.1101C>T	XP_011542606.1:p.Leu367=