Canonical Allele Identifier: CA373266260
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517300T>A , CM000671.2:g.34517300T>A GRCh38
NC_000009.11:g.34517298T>A , CM000671.1:g.34517298T>A GRCh37
NC_000009.10:g.34507298T>A NCBI36
NG_008127.1:g.63488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1834T>A MANE Select ENSP00000242317.4:p.Leu612Ile
ENST00000242317.8:c.1834T>A ENSP00000242317.4:p.Leu612Ile
ENST00000442556.1:c.329+2561T>A
ENST00000470169.5:c.622T>A
ENST00000485580.1:n.410T>A
ENST00000614641.4:c.1846T>A ENSP00000480538.1:p.Leu616Ile
NM_001281428.1:c.1846T>A NP_001268357.1:p.Leu616Ile
NM_012144.3:c.1834T>A NP_036276.1:p.Leu612Ile
XM_006716758.2:c.1303T>A XP_006716821.1:p.Leu435Ile
XM_011517848.1:c.1588T>A XP_011516150.1:p.Leu530Ile
XM_006716758.3:c.1303T>A XP_006716821.1:p.Leu435Ile
XM_011517848.2:c.1588T>A XP_011516150.1:p.Leu530Ile
XM_017014625.2:c.1576T>A XP_016870114.1:p.Leu526Ile
XR_002956774.1:n.1937T>A
NM_012144.4:c.1834T>A MANE Select NP_036276.1:p.Leu612Ile
NM_001281428.2:c.1846T>A NP_001268357.1:p.Leu616Ile