Canonical Allele Identifier: CA373248524
Community Standard Title: NM_012144.4(DNAI1):c.622-2A>G
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34491493A>G , CM000671.2:g.34491493A>G GRCh38
NC_000009.11:g.34491491A>G , CM000671.1:g.34491491A>G GRCh37
NC_000009.10:g.34481491A>G NCBI36
NG_008127.1:g.37681A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012144.4:c.622-2A>G MANE Select NP_036276.1:n.622-2A>G
ENST00000242317.9:c.622-2A>G MANE Select ENSP00000242317.4:n.622-2A>G
NM_001281428.1:c.634-2A>G NP_001268357.1:n.634-2A>G
NM_001281428.2:c.634-2A>G NP_001268357.1:n.634-2A>G
NM_012144.3:c.622-2A>G NP_036276.1:n.622-2A>G
ENST00000242317.8:c.622-2A>G ENSP00000242317.4:n.622-2A>G
ENST00000437363.5:c.589-2A>G ENSP00000395396.1:n.589-2A>G
ENST00000488369.1:n.738-2A>G
ENST00000488790.1:n.151A>G
ENST00000614641.4:c.634-2A>G ENSP00000480538.1:n.634-2A>G
XM_006716758.2:c.91-2A>G XP_006716821.1:n.91-2A>G
XM_006716758.3:c.91-2A>G XP_006716821.1:n.91-2A>G
XM_011517846.1:c.634-2A>G XP_011516148.1:n.634-2A>G
XM_011517846.2:c.634-2A>G XP_011516148.1:n.634-2A>G
XM_011517847.1:c.634-2A>G XP_011516149.1:n.634-2A>G
XM_011517847.3:c.634-2A>G XP_011516149.1:n.634-2A>G
XM_011517848.1:c.634-2A>G XP_011516150.1:n.634-2A>G
XM_011517848.2:c.634-2A>G XP_011516150.1:n.634-2A>G
XM_011517849.1:c.634-2A>G XP_011516151.1:n.634-2A>G
XM_011517849.2:c.634-2A>G XP_011516151.1:n.634-2A>G
XM_011517850.1:c.634-2A>G XP_011516152.1:n.634-2A>G
XM_011517850.3:c.634-2A>G XP_011516152.1:n.634-2A>G
XM_017014625.2:c.622-2A>G XP_016870114.1:n.622-2A>G
XR_002956774.1:n.835-2A>G
XR_929232.1:n.888-2A>G
XR_929232.2:n.835-2A>G
XR_929233.1:n.888-2A>G
XR_929233.2:n.835-2A>G
XR_929235.1:n.888-2A>G