Canonical Allele Identifier: CA1148268610
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265290T= , CM000663.2:g.231265290T= GRCh38
NC_000001.10:g.231401036T= , CM000663.1:g.231401036T= GRCh37
NC_000001.9:g.229467659T= NCBI36
NG_008240.1:g.29118T=
NG_008240.2:g.29118T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.569-3T= MANE Select ENSP00000355607.4:n.569-3T=
ENST00000644483.1:c.*255-3T= ENSP00000496537.1:n.*255-3T=
ENST00000366647.8:c.569-3T= ENSP00000355607.4:n.569-3T=
ENST00000416000.1:c.539-3T= ENSP00000411640.1:n.539-3T=
ENST00000436239.5:c.386-3T= ENSP00000402811.1:n.386-3T=
NM_001316350.1:c.386-3T= NP_001303279.1:n.386-3T=
NM_014236.3:c.569-3T= NP_055051.1:n.569-3T=
XM_005273313.3:c.566-3T= XP_005273370.1:n.566-3T=
XM_011544303.1:c.242-3T= XP_011542605.1:n.242-3T=
XM_011544304.1:c.242-3T= XP_011542606.1:n.242-3T=
XM_005273313.4:c.566-3T= XP_005273370.1:n.566-3T=
XM_011544303.3:c.242-3T= XP_011542605.1:n.242-3T=
XM_011544304.2:c.242-3T= XP_011542606.1:n.242-3T=
NM_014236.4:c.569-3T= MANE Select NP_055051.1:n.569-3T=
NM_001316350.2:c.386-3T= NP_001303279.1:n.386-3T=