Canonical Allele Identifier: CA1226898748
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265426T= , CM000663.2:g.231265426T= GRCh38
NC_000001.10:g.231401172T= , CM000663.1:g.231401172T= GRCh37
NC_000001.9:g.229467795T= NCBI36
NG_008240.1:g.29254T=
NG_008240.2:g.29254T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.696+6T= MANE Select ENSP00000355607.4:n.696+6T=
ENST00000644483.1:c.*382+6T= ENSP00000496537.1:n.*382+6T=
ENST00000366647.8:c.696+6T= ENSP00000355607.4:n.696+6T=
ENST00000416000.1:c.666+6T= ENSP00000411640.1:n.666+6T=
ENST00000436239.5:c.513+6T= ENSP00000402811.1:n.513+6T=
NM_001316350.1:c.513+6T= NP_001303279.1:n.513+6T=
NM_014236.3:c.696+6T= NP_055051.1:n.696+6T=
XM_005273313.3:c.693+6T= XP_005273370.1:n.693+6T=
XM_011544303.1:c.369+6T= XP_011542605.1:n.369+6T=
XM_011544304.1:c.369+6T= XP_011542606.1:n.369+6T=
XM_005273313.4:c.693+6T= XP_005273370.1:n.693+6T=
XM_011544303.3:c.369+6T= XP_011542605.1:n.369+6T=
XM_011544304.2:c.369+6T= XP_011542606.1:n.369+6T=
NM_014236.4:c.696+6T= MANE Select NP_055051.1:n.696+6T=
NM_001316350.2:c.513+6T= NP_001303279.1:n.513+6T=