Canonical Allele Identifier: CA345231395

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231260543C>T , CM000663.2:g.231260543C>T	GRCh38
NC_000001.10:g.231396289C>T , CM000663.1:g.231396289C>T	GRCh37
NC_000001.9:g.229462912C>T	NCBI36
NG_008240.1:g.24371C>T
NG_008240.2:g.24371C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.298C>T MANE Select	NP_055051.1:p.Arg100Ter
ENST00000366647.9:c.298C>T MANE Select	ENSP00000355607.4:p.Arg100Ter
NM_001316350.1:c.115C>T	NP_001303279.1:p.Arg39Ter
NM_001316350.2:c.115C>T	NP_001303279.1:p.Arg39Ter
NM_014236.3:c.298C>T	NP_055051.1:p.Arg100Ter
ENST00000366647.8:c.298C>T	ENSP00000355607.4:p.Arg100Ter
ENST00000416000.1:c.298C>T	ENSP00000411640.1:p.Arg100Ter
ENST00000436239.5:c.115C>T	ENSP00000402811.1:p.Arg39Ter
ENST00000644483.1:c.386C>T	ENSP00000496537.1:p.Pro129Leu
XM_005273313.3:c.295C>T	XP_005273370.1:p.Arg99Ter
XM_005273313.4:c.295C>T	XP_005273370.1:p.Arg99Ter
XM_011544303.1:c.-30C>T	XP_011542605.1:n.-30C>T
XM_011544303.3:c.-30C>T	XP_011542605.1:n.-30C>T
XM_011544304.1:c.-30C>T	XP_011542606.1:n.-30C>T
XM_011544304.2:c.-30C>T	XP_011542606.1:n.-30C>T