Canonical Allele Identifier: CA373266693
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517367A>C , CM000671.2:g.34517367A>C GRCh38
NC_000009.11:g.34517365A>C , CM000671.1:g.34517365A>C GRCh37
NC_000009.10:g.34507365A>C NCBI36
NG_008127.1:g.63555A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1901A>C MANE Select ENSP00000242317.4:p.His634Pro
ENST00000242317.8:c.1901A>C ENSP00000242317.4:p.His634Pro
ENST00000442556.1:c.329+2628A>C
ENST00000470169.5:c.689A>C
ENST00000485580.1:n.477A>C
ENST00000614641.4:c.1913A>C ENSP00000480538.1:p.His638Pro
NM_001281428.1:c.1913A>C NP_001268357.1:p.His638Pro
NM_012144.3:c.1901A>C NP_036276.1:p.His634Pro
XM_006716758.2:c.1370A>C XP_006716821.1:p.His457Pro
XM_011517848.1:c.1655A>C XP_011516150.1:p.His552Pro
XM_006716758.3:c.1370A>C XP_006716821.1:p.His457Pro
XM_011517848.2:c.1655A>C XP_011516150.1:p.His552Pro
XM_017014625.2:c.1643A>C XP_016870114.1:p.His548Pro
XR_002956774.1:n.2004A>C
NM_012144.4:c.1901A>C MANE Select NP_036276.1:p.His634Pro
NM_001281428.2:c.1913A>C NP_001268357.1:p.His638Pro