Canonical Allele Identifier: CA373263904
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34514529G>T , CM000671.2:g.34514529G>T GRCh38
NC_000009.11:g.34514527G>T , CM000671.1:g.34514527G>T GRCh37
NC_000009.10:g.34504527G>T NCBI36
NG_008127.1:g.60717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1705G>T MANE Select ENSP00000242317.4:p.Asp569Tyr
ENST00000242317.8:c.1705G>T ENSP00000242317.4:p.Asp569Tyr
ENST00000442556.1:c.216G>T
ENST00000470169.5:c.507-111G>T
ENST00000485580.1:n.184G>T
ENST00000614641.4:c.1717G>T ENSP00000480538.1:p.Asp573Tyr
NM_001281428.1:c.1717G>T NP_001268357.1:p.Asp573Tyr
NM_012144.3:c.1705G>T NP_036276.1:p.Asp569Tyr
XM_006716758.2:c.1174G>T XP_006716821.1:p.Asp392Tyr
XM_011517846.1:c.1717G>T XP_011516148.1:p.Asp573Tyr
XM_011517847.1:c.1717G>T XP_011516149.1:p.Asp573Tyr
XM_011517848.1:c.1459G>T XP_011516150.1:p.Asp487Tyr
XM_011517849.1:c.1607G>T XP_011516151.1:p.Gly536Val
XR_929232.1:n.1861G>T
XR_929233.1:n.1861G>T
XR_929235.1:n.1603G>T
XM_006716758.3:c.1174G>T XP_006716821.1:p.Asp392Tyr
XM_011517846.2:c.1717G>T XP_011516148.1:p.Asp573Tyr
XM_011517847.3:c.1717G>T XP_011516149.1:p.Asp573Tyr
XM_011517848.2:c.1459G>T XP_011516150.1:p.Asp487Tyr
XM_011517849.2:c.1607G>T XP_011516151.1:p.Gly536Val
XM_017014625.2:c.1447G>T XP_016870114.1:p.Asp483Tyr
XR_002956774.1:n.1808G>T
XR_929232.2:n.1808G>T
XR_929233.2:n.1808G>T
NM_012144.4:c.1705G>T MANE Select NP_036276.1:p.Asp569Tyr
NM_001281428.2:c.1717G>T NP_001268357.1:p.Asp573Tyr