Canonical Allele Identifier: CA373257138
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34506783-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506783A>T , CM000671.2:g.34506783A>T GRCh38
NC_000009.11:g.34506781A>T , CM000671.1:g.34506781A>T GRCh37
NC_000009.10:g.34496781A>T NCBI36
NG_008127.1:g.52971A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1220A>T MANE Select ENSP00000242317.4:p.Asn407Ile
ENST00000242317.8:c.1220A>T ENSP00000242317.4:p.Asn407Ile
ENST00000470169.5:c.157A>T
ENST00000614641.4:c.1232A>T ENSP00000480538.1:p.Asn411Ile
NM_001281428.1:c.1232A>T NP_001268357.1:p.Asn411Ile
NM_012144.3:c.1220A>T NP_036276.1:p.Asn407Ile
XM_006716758.2:c.689A>T XP_006716821.1:p.Asn230Ile
XM_011517846.1:c.1232A>T XP_011516148.1:p.Asn411Ile
XM_011517847.1:c.1232A>T XP_011516149.1:p.Asn411Ile
XM_011517848.1:c.1232A>T XP_011516150.1:p.Asn411Ile
XM_011517849.1:c.1232A>T XP_011516151.1:p.Asn411Ile
XM_011517850.1:c.1232A>T XP_011516152.1:p.Asn411Ile
XR_929232.1:n.1486A>T
XR_929233.1:n.1486A>T
XR_929235.1:n.1486A>T
XM_006716758.3:c.689A>T XP_006716821.1:p.Asn230Ile
XM_011517846.2:c.1232A>T XP_011516148.1:p.Asn411Ile
XM_011517847.3:c.1232A>T XP_011516149.1:p.Asn411Ile
XM_011517848.2:c.1232A>T XP_011516150.1:p.Asn411Ile
XM_011517849.2:c.1232A>T XP_011516151.1:p.Asn411Ile
XM_011517850.3:c.1232A>T XP_011516152.1:p.Asn411Ile
XM_017014625.2:c.1220A>T XP_016870114.1:p.Asn407Ile
XR_002956774.1:n.1433A>T
XR_929232.2:n.1433A>T
XR_929233.2:n.1433A>T
NM_012144.4:c.1220A>T MANE Select NP_036276.1:p.Asn407Ile
NM_001281428.2:c.1232A>T NP_001268357.1:p.Asn411Ile