Canonical Allele Identifier: CA373257620
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506842A>G , CM000671.2:g.34506842A>G GRCh38
NC_000009.11:g.34506840A>G , CM000671.1:g.34506840A>G GRCh37
NC_000009.10:g.34496840A>G NCBI36
NG_008127.1:g.53030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1279A>G MANE Select ENSP00000242317.4:p.Lys427Glu
ENST00000242317.8:c.1279A>G ENSP00000242317.4:p.Lys427Glu
ENST00000470169.5:c.216A>G
ENST00000614641.4:c.1291A>G ENSP00000480538.1:p.Lys431Glu
NM_001281428.1:c.1291A>G NP_001268357.1:p.Lys431Glu
NM_012144.3:c.1279A>G NP_036276.1:p.Lys427Glu
XM_006716758.2:c.748A>G XP_006716821.1:p.Lys250Glu
XM_011517846.1:c.1291A>G XP_011516148.1:p.Lys431Glu
XM_011517847.1:c.1291A>G XP_011516149.1:p.Lys431Glu
XM_011517848.1:c.1291A>G XP_011516150.1:p.Lys431Glu
XM_011517849.1:c.1291A>G XP_011516151.1:p.Lys431Glu
XM_011517850.1:c.1291A>G XP_011516152.1:p.Lys431Glu
XR_929232.1:n.1545A>G
XR_929233.1:n.1545A>G
XR_929235.1:n.1545A>G
XM_006716758.3:c.748A>G XP_006716821.1:p.Lys250Glu
XM_011517846.2:c.1291A>G XP_011516148.1:p.Lys431Glu
XM_011517847.3:c.1291A>G XP_011516149.1:p.Lys431Glu
XM_011517848.2:c.1291A>G XP_011516150.1:p.Lys431Glu
XM_011517849.2:c.1291A>G XP_011516151.1:p.Lys431Glu
XM_011517850.3:c.1291A>G XP_011516152.1:p.Lys431Glu
XM_017014625.2:c.1279A>G XP_016870114.1:p.Lys427Glu
XR_002956774.1:n.1492A>G
XR_929232.2:n.1492A>G
XR_929233.2:n.1492A>G
NM_012144.4:c.1279A>G MANE Select NP_036276.1:p.Lys427Glu
NM_001281428.2:c.1291A>G NP_001268357.1:p.Lys431Glu