Canonical Allele Identifier: CA373266243
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34517297-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517297G>T , CM000671.2:g.34517297G>T GRCh38
NC_000009.11:g.34517295G>T , CM000671.1:g.34517295G>T GRCh37
NC_000009.10:g.34507295G>T NCBI36
NG_008127.1:g.63485G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1831G>T MANE Select ENSP00000242317.4:p.Asp611Tyr
ENST00000242317.8:c.1831G>T ENSP00000242317.4:p.Asp611Tyr
ENST00000442556.1:c.329+2558G>T
ENST00000470169.5:c.619G>T
ENST00000485580.1:n.407G>T
ENST00000614641.4:c.1843G>T ENSP00000480538.1:p.Asp615Tyr
NM_001281428.1:c.1843G>T NP_001268357.1:p.Asp615Tyr
NM_012144.3:c.1831G>T NP_036276.1:p.Asp611Tyr
XM_006716758.2:c.1300G>T XP_006716821.1:p.Asp434Tyr
XM_011517848.1:c.1585G>T XP_011516150.1:p.Asp529Tyr
XM_006716758.3:c.1300G>T XP_006716821.1:p.Asp434Tyr
XM_011517848.2:c.1585G>T XP_011516150.1:p.Asp529Tyr
XM_017014625.2:c.1573G>T XP_016870114.1:p.Asp525Tyr
XR_002956774.1:n.1934G>T
NM_012144.4:c.1831G>T MANE Select NP_036276.1:p.Asp611Tyr
NM_001281428.2:c.1843G>T NP_001268357.1:p.Asp615Tyr