Canonical Allele Identifier: CA373257490
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506827T>G , CM000671.2:g.34506827T>G GRCh38
NC_000009.11:g.34506825T>G , CM000671.1:g.34506825T>G GRCh37
NC_000009.10:g.34496825T>G NCBI36
NG_008127.1:g.53015T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1264T>G MANE Select ENSP00000242317.4:p.Phe422Val
ENST00000242317.8:c.1264T>G ENSP00000242317.4:p.Phe422Val
ENST00000470169.5:c.201T>G
ENST00000614641.4:c.1276T>G ENSP00000480538.1:p.Phe426Val
NM_001281428.1:c.1276T>G NP_001268357.1:p.Phe426Val
NM_012144.3:c.1264T>G NP_036276.1:p.Phe422Val
XM_006716758.2:c.733T>G XP_006716821.1:p.Phe245Val
XM_011517846.1:c.1276T>G XP_011516148.1:p.Phe426Val
XM_011517847.1:c.1276T>G XP_011516149.1:p.Phe426Val
XM_011517848.1:c.1276T>G XP_011516150.1:p.Phe426Val
XM_011517849.1:c.1276T>G XP_011516151.1:p.Phe426Val
XM_011517850.1:c.1276T>G XP_011516152.1:p.Phe426Val
XR_929232.1:n.1530T>G
XR_929233.1:n.1530T>G
XR_929235.1:n.1530T>G
XM_006716758.3:c.733T>G XP_006716821.1:p.Phe245Val
XM_011517846.2:c.1276T>G XP_011516148.1:p.Phe426Val
XM_011517847.3:c.1276T>G XP_011516149.1:p.Phe426Val
XM_011517848.2:c.1276T>G XP_011516150.1:p.Phe426Val
XM_011517849.2:c.1276T>G XP_011516151.1:p.Phe426Val
XM_011517850.3:c.1276T>G XP_011516152.1:p.Phe426Val
XM_017014625.2:c.1264T>G XP_016870114.1:p.Phe422Val
XR_002956774.1:n.1477T>G
XR_929232.2:n.1477T>G
XR_929233.2:n.1477T>G
NM_012144.4:c.1264T>G MANE Select NP_036276.1:p.Phe422Val
NM_001281428.2:c.1276T>G NP_001268357.1:p.Phe426Val