Canonical Allele Identifier: CA373266501
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1858A>T MANE Select ENSP00000242317.4:p.Ile620Phe
ENST00000242317.8:c.1858A>T ENSP00000242317.4:p.Ile620Phe
ENST00000442556.1:c.329+2585A>T
ENST00000470169.5:c.646A>T
ENST00000485580.1:n.434A>T
ENST00000614641.4:c.1870A>T ENSP00000480538.1:p.Ile624Phe
NM_001281428.1:c.1870A>T NP_001268357.1:p.Ile624Phe
NM_012144.3:c.1858A>T NP_036276.1:p.Ile620Phe
XM_006716758.2:c.1327A>T XP_006716821.1:p.Ile443Phe
XM_011517848.1:c.1612A>T XP_011516150.1:p.Ile538Phe
XM_006716758.3:c.1327A>T XP_006716821.1:p.Ile443Phe
XM_011517848.2:c.1612A>T XP_011516150.1:p.Ile538Phe
XM_017014625.2:c.1600A>T XP_016870114.1:p.Ile534Phe
XR_002956774.1:n.1961A>T
NM_012144.4:c.1858A>T MANE Select NP_036276.1:p.Ile620Phe
NM_001281428.2:c.1870A>T NP_001268357.1:p.Ile624Phe