Canonical Allele Identifier: CA373257083
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506777A>C , CM000671.2:g.34506777A>C GRCh38
NC_000009.11:g.34506775A>C , CM000671.1:g.34506775A>C GRCh37
NC_000009.10:g.34496775A>C NCBI36
NG_008127.1:g.52965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1214A>C MANE Select ENSP00000242317.4:p.Asp405Ala
ENST00000242317.8:c.1214A>C ENSP00000242317.4:p.Asp405Ala
ENST00000470169.5:c.151A>C
ENST00000614641.4:c.1226A>C ENSP00000480538.1:p.Asp409Ala
NM_001281428.1:c.1226A>C NP_001268357.1:p.Asp409Ala
NM_012144.3:c.1214A>C NP_036276.1:p.Asp405Ala
XM_006716758.2:c.683A>C XP_006716821.1:p.Asp228Ala
XM_011517846.1:c.1226A>C XP_011516148.1:p.Asp409Ala
XM_011517847.1:c.1226A>C XP_011516149.1:p.Asp409Ala
XM_011517848.1:c.1226A>C XP_011516150.1:p.Asp409Ala
XM_011517849.1:c.1226A>C XP_011516151.1:p.Asp409Ala
XM_011517850.1:c.1226A>C XP_011516152.1:p.Asp409Ala
XR_929232.1:n.1480A>C
XR_929233.1:n.1480A>C
XR_929235.1:n.1480A>C
XM_006716758.3:c.683A>C XP_006716821.1:p.Asp228Ala
XM_011517846.2:c.1226A>C XP_011516148.1:p.Asp409Ala
XM_011517847.3:c.1226A>C XP_011516149.1:p.Asp409Ala
XM_011517848.2:c.1226A>C XP_011516150.1:p.Asp409Ala
XM_011517849.2:c.1226A>C XP_011516151.1:p.Asp409Ala
XM_011517850.3:c.1226A>C XP_011516152.1:p.Asp409Ala
XM_017014625.2:c.1214A>C XP_016870114.1:p.Asp405Ala
XR_002956774.1:n.1427A>C
XR_929232.2:n.1427A>C
XR_929233.2:n.1427A>C
NM_012144.4:c.1214A>C MANE Select NP_036276.1:p.Asp405Ala
NM_001281428.2:c.1226A>C NP_001268357.1:p.Asp409Ala