Canonical Allele Identifier: CA373257161
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506786T>C , CM000671.2:g.34506786T>C GRCh38
NC_000009.11:g.34506784T>C , CM000671.1:g.34506784T>C GRCh37
NC_000009.10:g.34496784T>C NCBI36
NG_008127.1:g.52974T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1223T>C MANE Select ENSP00000242317.4:p.Val408Ala
ENST00000242317.8:c.1223T>C ENSP00000242317.4:p.Val408Ala
ENST00000470169.5:c.160T>C
ENST00000614641.4:c.1235T>C ENSP00000480538.1:p.Val412Ala
NM_001281428.1:c.1235T>C NP_001268357.1:p.Val412Ala
NM_012144.3:c.1223T>C NP_036276.1:p.Val408Ala
XM_006716758.2:c.692T>C XP_006716821.1:p.Val231Ala
XM_011517846.1:c.1235T>C XP_011516148.1:p.Val412Ala
XM_011517847.1:c.1235T>C XP_011516149.1:p.Val412Ala
XM_011517848.1:c.1235T>C XP_011516150.1:p.Val412Ala
XM_011517849.1:c.1235T>C XP_011516151.1:p.Val412Ala
XM_011517850.1:c.1235T>C XP_011516152.1:p.Val412Ala
XR_929232.1:n.1489T>C
XR_929233.1:n.1489T>C
XR_929235.1:n.1489T>C
XM_006716758.3:c.692T>C XP_006716821.1:p.Val231Ala
XM_011517846.2:c.1235T>C XP_011516148.1:p.Val412Ala
XM_011517847.3:c.1235T>C XP_011516149.1:p.Val412Ala
XM_011517848.2:c.1235T>C XP_011516150.1:p.Val412Ala
XM_011517849.2:c.1235T>C XP_011516151.1:p.Val412Ala
XM_011517850.3:c.1235T>C XP_011516152.1:p.Val412Ala
XM_017014625.2:c.1223T>C XP_016870114.1:p.Val408Ala
XR_002956774.1:n.1436T>C
XR_929232.2:n.1436T>C
XR_929233.2:n.1436T>C
NM_012144.4:c.1223T>C MANE Select NP_036276.1:p.Val408Ala
NM_001281428.2:c.1235T>C NP_001268357.1:p.Val412Ala