Canonical Allele Identifier: CA2689798667
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34517266-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517266G>T , CM000671.2:g.34517266G>T GRCh38
NC_000009.11:g.34517264G>T , CM000671.1:g.34517264G>T GRCh37
NC_000009.10:g.34507264G>T NCBI36
NG_008127.1:g.63454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1819-19G>T MANE Select ENSP00000242317.4:n.1819-19G>T
ENST00000242317.8:c.1819-19G>T ENSP00000242317.4:n.1819-19G>T
ENST00000442556.1:c.329+2527G>T
ENST00000470169.5:c.607-19G>T
ENST00000485580.1:n.395-19G>T
ENST00000614641.4:c.1831-19G>T ENSP00000480538.1:n.1831-19G>T
NM_001281428.1:c.1831-19G>T NP_001268357.1:n.1831-19G>T
NM_012144.3:c.1819-19G>T NP_036276.1:n.1819-19G>T
XM_006716758.2:c.1288-19G>T XP_006716821.1:n.1288-19G>T
XM_011517847.1:c.*36G>T XP_011516149.1:n.*36G>T
XM_011517848.1:c.1573-19G>T XP_011516150.1:n.1573-19G>T
XR_929233.1:n.2046G>T
XM_006716758.3:c.1288-19G>T XP_006716821.1:n.1288-19G>T
XM_011517847.3:c.*36G>T XP_011516149.1:n.*36G>T
XM_011517848.2:c.1573-19G>T XP_011516150.1:n.1573-19G>T
XM_017014625.2:c.1561-19G>T XP_016870114.1:n.1561-19G>T
XR_002956774.1:n.1922-19G>T
XR_929233.2:n.1993G>T
NM_012144.4:c.1819-19G>T MANE Select NP_036276.1:n.1819-19G>T
NM_001281428.2:c.1831-19G>T NP_001268357.1:n.1831-19G>T