Canonical Allele Identifier: CA2072627085
Gene: PUS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131941269C= , CM000674.2:g.131941269C= GRCh38
NC_000012.11:g.132425814C= , CM000674.1:g.132425814C= GRCh37
NC_000012.10:g.130991767C= NCBI36
NG_013039.1:g.17070C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376649.8:c.545-23C= MANE Select ENSP00000365837.3:n.545-23C=
ENST00000322060.9:c.461-23C= ENSP00000324726.5:n.461-23C=
ENST00000376649.7:c.545-23C= ENSP00000365837.3:n.545-23C=
ENST00000443358.6:c.461-23C= ENSP00000392451.2:n.461-23C=
ENST00000535067.5:c.358-2270C= ENSP00000443969.1:n.358-2270C=
ENST00000537484.1:c.470-23C= ENSP00000440179.1:n.470-23C=
ENST00000542167.2:c.386-23C= ENSP00000438948.1:n.386-23C=
ENST00000543754.1:n.343C=
NM_001002019.2:c.461-23C= NP_001002019.1:n.461-23C=
NM_001002020.2:c.461-23C= NP_001002020.1:n.461-23C=
NM_025215.5:c.545-23C= NP_079491.2:n.545-23C=
XM_011538768.1:c.146-23C= XP_011537070.1:n.146-23C=
XM_011538768.3:c.146-23C= XP_011537070.1:n.146-23C=
XR_001748872.1:n.1000-23C=
NM_001002019.3:c.461-23C= NP_001002019.1:n.461-23C=
NM_001002020.3:c.461-23C= NP_001002020.1:n.461-23C=
NM_025215.6:c.545-23C= MANE Select NP_079491.2:n.545-23C=