Canonical Allele Identifier: CA1845599254
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506806A= , CM000671.2:g.34506806A= GRCh38
NC_000009.11:g.34506804A= , CM000671.1:g.34506804A= GRCh37
NC_000009.10:g.34496804A= NCBI36
NG_008127.1:g.52994A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1243A= MANE Select ENSP00000242317.4:p.Lys415=
ENST00000242317.8:c.1243A= ENSP00000242317.4:p.Lys415=
ENST00000470169.5:c.180A=
ENST00000614641.4:c.1255A= ENSP00000480538.1:p.Lys419=
NM_001281428.1:c.1255A= NP_001268357.1:p.Lys419=
NM_012144.3:c.1243A= NP_036276.1:p.Lys415=
XM_006716758.2:c.712A= XP_006716821.1:p.Lys238=
XM_011517846.1:c.1255A= XP_011516148.1:p.Lys419=
XM_011517847.1:c.1255A= XP_011516149.1:p.Lys419=
XM_011517848.1:c.1255A= XP_011516150.1:p.Lys419=
XM_011517849.1:c.1255A= XP_011516151.1:p.Lys419=
XM_011517850.1:c.1255A= XP_011516152.1:p.Lys419=
XR_929232.1:n.1509A=
XR_929233.1:n.1509A=
XR_929235.1:n.1509A=
XM_006716758.3:c.712A= XP_006716821.1:p.Lys238=
XM_011517846.2:c.1255A= XP_011516148.1:p.Lys419=
XM_011517847.3:c.1255A= XP_011516149.1:p.Lys419=
XM_011517848.2:c.1255A= XP_011516150.1:p.Lys419=
XM_011517849.2:c.1255A= XP_011516151.1:p.Lys419=
XM_011517850.3:c.1255A= XP_011516152.1:p.Lys419=
XM_017014625.2:c.1243A= XP_016870114.1:p.Lys415=
XR_002956774.1:n.1456A=
XR_929232.2:n.1456A=
XR_929233.2:n.1456A=
NM_012144.4:c.1243A= MANE Select NP_036276.1:p.Lys415=
NM_001281428.2:c.1255A= NP_001268357.1:p.Lys419=