Canonical Allele Identifier: CA373257639
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506843A>G , CM000671.2:g.34506843A>G GRCh38
NC_000009.11:g.34506841A>G , CM000671.1:g.34506841A>G GRCh37
NC_000009.10:g.34496841A>G NCBI36
NG_008127.1:g.53031A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1280A>G MANE Select ENSP00000242317.4:p.Lys427Arg
ENST00000242317.8:c.1280A>G ENSP00000242317.4:p.Lys427Arg
ENST00000470169.5:c.217A>G
ENST00000614641.4:c.1292A>G ENSP00000480538.1:p.Lys431Arg
NM_001281428.1:c.1292A>G NP_001268357.1:p.Lys431Arg
NM_012144.3:c.1280A>G NP_036276.1:p.Lys427Arg
XM_006716758.2:c.749A>G XP_006716821.1:p.Lys250Arg
XM_011517846.1:c.1292A>G XP_011516148.1:p.Lys431Arg
XM_011517847.1:c.1292A>G XP_011516149.1:p.Lys431Arg
XM_011517848.1:c.1292A>G XP_011516150.1:p.Lys431Arg
XM_011517849.1:c.1292A>G XP_011516151.1:p.Lys431Arg
XM_011517850.1:c.1292A>G XP_011516152.1:p.Lys431Arg
XR_929232.1:n.1546A>G
XR_929233.1:n.1546A>G
XR_929235.1:n.1546A>G
XM_006716758.3:c.749A>G XP_006716821.1:p.Lys250Arg
XM_011517846.2:c.1292A>G XP_011516148.1:p.Lys431Arg
XM_011517847.3:c.1292A>G XP_011516149.1:p.Lys431Arg
XM_011517848.2:c.1292A>G XP_011516150.1:p.Lys431Arg
XM_011517849.2:c.1292A>G XP_011516151.1:p.Lys431Arg
XM_011517850.3:c.1292A>G XP_011516152.1:p.Lys431Arg
XM_017014625.2:c.1280A>G XP_016870114.1:p.Lys427Arg
XR_002956774.1:n.1493A>G
XR_929232.2:n.1493A>G
XR_929233.2:n.1493A>G
NM_012144.4:c.1280A>G MANE Select NP_036276.1:p.Lys427Arg
NM_001281428.2:c.1292A>G NP_001268357.1:p.Lys431Arg