Canonical Allele Identifier: CA345236918

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231270775G>T , CM000663.2:g.231270775G>T	GRCh38
NC_000001.10:g.231406521G>T , CM000663.1:g.231406521G>T	GRCh37
NC_000001.9:g.229473144G>T	NCBI36
NG_008240.1:g.34603G>T
NG_008240.2:g.34603G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1297G>T MANE Select	NP_055051.1:p.Glu433Ter
ENST00000366647.9:c.1297G>T MANE Select	ENSP00000355607.4:p.Glu433Ter
NM_001316350.1:c.1114G>T	NP_001303279.1:p.Glu372Ter
NM_001316350.2:c.1114G>T	NP_001303279.1:p.Glu372Ter
NM_014236.3:c.1297G>T	NP_055051.1:p.Glu433Ter
ENST00000366647.8:c.1297G>T	ENSP00000355607.4:p.Glu433Ter
ENST00000416000.1:c.1267G>T	ENSP00000411640.1:p.Glu423Ter
ENST00000644483.1:c.*983G>T	ENSP00000496537.1:n.*983G>T
XM_005273313.3:c.1294G>T	XP_005273370.1:p.Glu432Ter
XM_005273313.4:c.1294G>T	XP_005273370.1:p.Glu432Ter
XM_011544303.1:c.970G>T	XP_011542605.1:p.Glu324Ter
XM_011544303.3:c.970G>T	XP_011542605.1:p.Glu324Ter
XM_011544304.1:c.970G>T	XP_011542606.1:p.Glu324Ter
XM_011544304.2:c.970G>T	XP_011542606.1:p.Glu324Ter