Canonical Allele Identifier: CA373266709
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517370T>C , CM000671.2:g.34517370T>C GRCh38
NC_000009.11:g.34517368T>C , CM000671.1:g.34517368T>C GRCh37
NC_000009.10:g.34507368T>C NCBI36
NG_008127.1:g.63558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1904T>C MANE Select ENSP00000242317.4:p.Val635Ala
ENST00000242317.8:c.1904T>C ENSP00000242317.4:p.Val635Ala
ENST00000442556.1:c.329+2631T>C
ENST00000470169.5:c.692T>C
ENST00000485580.1:n.480T>C
ENST00000614641.4:c.1916T>C ENSP00000480538.1:p.Val639Ala
NM_001281428.1:c.1916T>C NP_001268357.1:p.Val639Ala
NM_012144.3:c.1904T>C NP_036276.1:p.Val635Ala
XM_006716758.2:c.1373T>C XP_006716821.1:p.Val458Ala
XM_011517848.1:c.1658T>C XP_011516150.1:p.Val553Ala
XM_006716758.3:c.1373T>C XP_006716821.1:p.Val458Ala
XM_011517848.2:c.1658T>C XP_011516150.1:p.Val553Ala
XM_017014625.2:c.1646T>C XP_016870114.1:p.Val549Ala
XR_002956774.1:n.2007T>C
NM_012144.4:c.1904T>C MANE Select NP_036276.1:p.Val635Ala
NM_001281428.2:c.1916T>C NP_001268357.1:p.Val639Ala