Canonical Allele Identifier: CA1226898711
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265305T= , CM000663.2:g.231265305T= GRCh38
NC_000001.10:g.231401051T= , CM000663.1:g.231401051T= GRCh37
NC_000001.9:g.229467674T= NCBI36
NG_008240.1:g.29133T=
NG_008240.2:g.29133T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.581T= MANE Select ENSP00000355607.4:p.Met194=
ENST00000644483.1:c.*267T= ENSP00000496537.1:n.*267T=
ENST00000366647.8:c.581T= ENSP00000355607.4:p.Met194=
ENST00000416000.1:c.551T= ENSP00000411640.1:p.Met184=
ENST00000436239.5:c.398T= ENSP00000402811.1:p.Met133=
NM_001316350.1:c.398T= NP_001303279.1:p.Met133=
NM_014236.3:c.581T= NP_055051.1:p.Met194=
XM_005273313.3:c.578T= XP_005273370.1:p.Met193=
XM_011544303.1:c.254T= XP_011542605.1:p.Met85=
XM_011544304.1:c.254T= XP_011542606.1:p.Met85=
XM_005273313.4:c.578T= XP_005273370.1:p.Met193=
XM_011544303.3:c.254T= XP_011542605.1:p.Met85=
XM_011544304.2:c.254T= XP_011542606.1:p.Met85=
NM_014236.4:c.581T= MANE Select NP_055051.1:p.Met194=
NM_001316350.2:c.398T= NP_001303279.1:p.Met133=