Canonical Allele Identifier: CA373266487
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517322C>A , CM000671.2:g.34517322C>A GRCh38
NC_000009.11:g.34517320C>A , CM000671.1:g.34517320C>A GRCh37
NC_000009.10:g.34507320C>A NCBI36
NG_008127.1:g.63510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1856C>A MANE Select ENSP00000242317.4:p.Ala619Asp
ENST00000242317.8:c.1856C>A ENSP00000242317.4:p.Ala619Asp
ENST00000442556.1:c.329+2583C>A
ENST00000470169.5:c.644C>A
ENST00000485580.1:n.432C>A
ENST00000614641.4:c.1868C>A ENSP00000480538.1:p.Ala623Asp
NM_001281428.1:c.1868C>A NP_001268357.1:p.Ala623Asp
NM_012144.3:c.1856C>A NP_036276.1:p.Ala619Asp
XM_006716758.2:c.1325C>A XP_006716821.1:p.Ala442Asp
XM_011517848.1:c.1610C>A XP_011516150.1:p.Ala537Asp
XM_006716758.3:c.1325C>A XP_006716821.1:p.Ala442Asp
XM_011517848.2:c.1610C>A XP_011516150.1:p.Ala537Asp
XM_017014625.2:c.1598C>A XP_016870114.1:p.Ala533Asp
XR_002956774.1:n.1959C>A
NM_012144.4:c.1856C>A MANE Select NP_036276.1:p.Ala619Asp
NM_001281428.2:c.1868C>A NP_001268357.1:p.Ala623Asp