Canonical Allele Identifier: CA1845591571
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517305C= , CM000671.2:g.34517305C= GRCh38
NC_000009.11:g.34517303C= , CM000671.1:g.34517303C= GRCh37
NC_000009.10:g.34507303C= NCBI36
NG_008127.1:g.63493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1839C= MANE Select ENSP00000242317.4:p.Ala613=
ENST00000242317.8:c.1839C= ENSP00000242317.4:p.Ala613=
ENST00000442556.1:c.329+2566C=
ENST00000470169.5:c.627C=
ENST00000485580.1:n.415C=
ENST00000614641.4:c.1851C= ENSP00000480538.1:p.Ala617=
NM_001281428.1:c.1851C= NP_001268357.1:p.Ala617=
NM_012144.3:c.1839C= NP_036276.1:p.Ala613=
XM_006716758.2:c.1308C= XP_006716821.1:p.Ala436=
XM_011517848.1:c.1593C= XP_011516150.1:p.Ala531=
XM_006716758.3:c.1308C= XP_006716821.1:p.Ala436=
XM_011517848.2:c.1593C= XP_011516150.1:p.Ala531=
XM_017014625.2:c.1581C= XP_016870114.1:p.Ala527=
XR_002956774.1:n.1942C=
NM_012144.4:c.1839C= MANE Select NP_036276.1:p.Ala613=
NM_001281428.2:c.1851C= NP_001268357.1:p.Ala617=