Canonical Allele Identifier: CA373244555
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34489359-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34489359C>G , CM000671.2:g.34489359C>G GRCh38
NC_000009.11:g.34489357C>G , CM000671.1:g.34489357C>G GRCh37
NC_000009.10:g.34479357C>G NCBI36
NG_008127.1:g.35547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.298C>G MANE Select ENSP00000242317.4:p.Leu100Val
ENST00000242317.8:c.298C>G ENSP00000242317.4:p.Leu100Val
ENST00000437363.5:c.265C>G ENSP00000395396.1:p.Leu89Val
ENST00000488369.1:n.414C>G
ENST00000614641.4:c.298C>G ENSP00000480538.1:p.Leu100Val
NM_001281428.1:c.298C>G NP_001268357.1:p.Leu100Val
NM_012144.3:c.298C>G NP_036276.1:p.Leu100Val
XM_011517846.1:c.298C>G XP_011516148.1:p.Leu100Val
XM_011517847.1:c.298C>G XP_011516149.1:p.Leu100Val
XM_011517848.1:c.298C>G XP_011516150.1:p.Leu100Val
XM_011517849.1:c.298C>G XP_011516151.1:p.Leu100Val
XM_011517850.1:c.298C>G XP_011516152.1:p.Leu100Val
XR_929232.1:n.552C>G
XR_929233.1:n.552C>G
XR_929235.1:n.552C>G
XM_006716758.3:c.-179C>G XP_006716821.1:n.-179C>G
XM_011517846.2:c.298C>G XP_011516148.1:p.Leu100Val
XM_011517847.3:c.298C>G XP_011516149.1:p.Leu100Val
XM_011517848.2:c.298C>G XP_011516150.1:p.Leu100Val
XM_011517849.2:c.298C>G XP_011516151.1:p.Leu100Val
XM_011517850.3:c.298C>G XP_011516152.1:p.Leu100Val
XM_017014625.2:c.298C>G XP_016870114.1:p.Leu100Val
XR_002956774.1:n.499C>G
XR_929232.2:n.499C>G
XR_929233.2:n.499C>G
NM_012144.4:c.298C>G MANE Select NP_036276.1:p.Leu100Val
NM_001281428.2:c.298C>G NP_001268357.1:p.Leu100Val