Canonical Allele Identifier: CA373266503
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34517324-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517324A>G , CM000671.2:g.34517324A>G GRCh38
NC_000009.11:g.34517322A>G , CM000671.1:g.34517322A>G GRCh37
NC_000009.10:g.34507322A>G NCBI36
NG_008127.1:g.63512A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1858A>G MANE Select ENSP00000242317.4:p.Ile620Val
ENST00000242317.8:c.1858A>G ENSP00000242317.4:p.Ile620Val
ENST00000442556.1:c.329+2585A>G
ENST00000470169.5:c.646A>G
ENST00000485580.1:n.434A>G
ENST00000614641.4:c.1870A>G ENSP00000480538.1:p.Ile624Val
NM_001281428.1:c.1870A>G NP_001268357.1:p.Ile624Val
NM_012144.3:c.1858A>G NP_036276.1:p.Ile620Val
XM_006716758.2:c.1327A>G XP_006716821.1:p.Ile443Val
XM_011517848.1:c.1612A>G XP_011516150.1:p.Ile538Val
XM_006716758.3:c.1327A>G XP_006716821.1:p.Ile443Val
XM_011517848.2:c.1612A>G XP_011516150.1:p.Ile538Val
XM_017014625.2:c.1600A>G XP_016870114.1:p.Ile534Val
XR_002956774.1:n.1961A>G
NM_012144.4:c.1858A>G MANE Select NP_036276.1:p.Ile620Val
NM_001281428.2:c.1870A>G NP_001268357.1:p.Ile624Val