Canonical Allele Identifier: CA1451807

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231262771C>T , CM000663.2:g.231262771C>T	GRCh38
NC_000001.10:g.231398517C>T , CM000663.1:g.231398517C>T	GRCh37
NC_000001.9:g.229465140C>T	NCBI36
NG_008240.1:g.26599C>T
NG_008240.2:g.26599C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.487C>T MANE Select	NP_055051.1:p.Arg163Ter
ENST00000366647.9:c.487C>T MANE Select	ENSP00000355607.4:p.Arg163Ter
NM_001316350.1:c.304C>T	NP_001303279.1:p.Arg102Ter
NM_001316350.2:c.304C>T	NP_001303279.1:p.Arg102Ter
NM_014236.3:c.487C>T	NP_055051.1:p.Arg163Ter
ENST00000366647.8:c.487C>T	ENSP00000355607.4:p.Arg163Ter
ENST00000416000.1:c.457C>T	ENSP00000411640.1:p.Arg153Ter
ENST00000436239.5:c.304C>T	ENSP00000402811.1:p.Arg102Ter
ENST00000644483.1:c.*173C>T	ENSP00000496537.1:n.*173C>T
XM_005273313.3:c.484C>T	XP_005273370.1:p.Arg162Ter
XM_005273313.4:c.484C>T	XP_005273370.1:p.Arg162Ter
XM_011544303.1:c.160C>T	XP_011542605.1:p.Arg54Ter
XM_011544303.3:c.160C>T	XP_011542605.1:p.Arg54Ter
XM_011544304.1:c.160C>T	XP_011542606.1:p.Arg54Ter
XM_011544304.2:c.160C>T	XP_011542606.1:p.Arg54Ter