Canonical Allele Identifier: CA373263660
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34514492C>G , CM000671.2:g.34514492C>G GRCh38
NC_000009.11:g.34514490C>G , CM000671.1:g.34514490C>G GRCh37
NC_000009.10:g.34504490C>G NCBI36
NG_008127.1:g.60680C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1668C>G MANE Select ENSP00000242317.4:p.Phe556Leu
ENST00000242317.8:c.1668C>G ENSP00000242317.4:p.Phe556Leu
ENST00000442556.1:c.179C>G
ENST00000470169.5:c.507-148C>G
ENST00000485580.1:n.147C>G
ENST00000614641.4:c.1680C>G ENSP00000480538.1:p.Phe560Leu
NM_001281428.1:c.1680C>G NP_001268357.1:p.Phe560Leu
NM_012144.3:c.1668C>G NP_036276.1:p.Phe556Leu
XM_006716758.2:c.1137C>G XP_006716821.1:p.Phe379Leu
XM_011517846.1:c.1680C>G XP_011516148.1:p.Phe560Leu
XM_011517847.1:c.1680C>G XP_011516149.1:p.Phe560Leu
XM_011517848.1:c.1422C>G XP_011516150.1:p.Phe474Leu
XM_011517849.1:c.1582-12C>G XP_011516151.1:n.1582-12C>G
XR_929232.1:n.1836-12C>G
XR_929233.1:n.1836-12C>G
XR_929235.1:n.1578-12C>G
XM_006716758.3:c.1137C>G XP_006716821.1:p.Phe379Leu
XM_011517846.2:c.1680C>G XP_011516148.1:p.Phe560Leu
XM_011517847.3:c.1680C>G XP_011516149.1:p.Phe560Leu
XM_011517848.2:c.1422C>G XP_011516150.1:p.Phe474Leu
XM_011517849.2:c.1582-12C>G XP_011516151.1:n.1582-12C>G
XM_017014625.2:c.1410C>G XP_016870114.1:p.Phe470Leu
XR_002956774.1:n.1783-12C>G
XR_929232.2:n.1783-12C>G
XR_929233.2:n.1783-12C>G
NM_012144.4:c.1668C>G MANE Select NP_036276.1:p.Phe556Leu
NM_001281428.2:c.1680C>G NP_001268357.1:p.Phe560Leu