Canonical Allele Identifier: CA6261010
Community Standard Title: NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
Gene: ALKBH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.107505002G>A , CM000673.2:g.107505002G>A GRCh38
NC_000011.9:g.107375728G>A , CM000673.1:g.107375728G>A GRCh37
NC_000011.8:g.106880938G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_138775.3:c.1651C>T MANE Select NP_620130.2:p.Arg551Ter
ENST00000428149.7:c.1651C>T MANE Select ENSP00000415885.2:p.Arg551Ter
NM_001301010.1:c.1660C>T NP_001287939.1:p.Arg554Ter
NM_001301010.2:c.1660C>T NP_001287939.1:p.Arg554Ter
NM_001301010.3:c.1651C>T NP_001287939.2:p.Arg551Ter
NM_001378133.1:c.1501C>T NP_001365062.1:p.Arg501Ter
NM_138775.2:c.1651C>T NP_620130.2:p.Arg551Ter
NR_165421.1:n.1314C>T
NR_165422.1:n.1687C>T
NR_165423.1:n.1721C>T
NR_165424.1:n.1566C>T
NR_165425.1:n.1716C>T
NR_165426.1:n.1725C>T
ENST00000260318.6:c.*456C>T ENSP00000260318.2:n.*456C>T
ENST00000389568.7:c.1651C>T ENSP00000374219.3:p.Arg551Ter
ENST00000417449.6:c.1660C>T ENSP00000397673.2:p.Arg554Ter
ENST00000428149.6:c.1651C>T ENSP00000415885.2:p.Arg551Ter
ENST00000429370.5:c.644-462C>T ENSP00000391225.1:n.644-462C>T
XM_005271728.2:c.1240C>T XP_005271785.1:p.Arg414Ter
XM_005271729.2:c.1240C>T XP_005271786.1:p.Arg414Ter
XM_005271729.3:c.1240C>T XP_005271786.1:p.Arg414Ter
XM_005271730.2:c.895C>T XP_005271787.1:p.Arg299Ter
XM_017018553.1:c.1510C>T XP_016874042.1:p.Arg504Ter
XM_017018554.2:c.1501C>T XP_016874043.1:p.Arg501Ter
XM_017018555.1:c.895C>T XP_016874044.1:p.Arg299Ter
XM_017018556.1:c.745C>T XP_016874045.1:p.Arg249Ter
XM_024448768.1:c.895C>T XP_024304536.1:p.Arg299Ter
XR_001748035.1:n.1508C>T