Canonical Allele Identifier: CA373263200
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34514425A>T , CM000671.2:g.34514425A>T GRCh38
NC_000009.11:g.34514423A>T , CM000671.1:g.34514423A>T GRCh37
NC_000009.10:g.34504423A>T NCBI36
NG_008127.1:g.60613A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1601A>T MANE Select ENSP00000242317.4:p.Asp534Val
ENST00000242317.8:c.1601A>T ENSP00000242317.4:p.Asp534Val
ENST00000442556.1:c.112A>T
ENST00000470169.5:c.507-215A>T
ENST00000485580.1:n.80A>T
ENST00000614641.4:c.1613A>T ENSP00000480538.1:p.Asp538Val
NM_001281428.1:c.1613A>T NP_001268357.1:p.Asp538Val
NM_012144.3:c.1601A>T NP_036276.1:p.Asp534Val
XM_006716758.2:c.1070A>T XP_006716821.1:p.Asp357Val
XM_011517846.1:c.1613A>T XP_011516148.1:p.Asp538Val
XM_011517847.1:c.1613A>T XP_011516149.1:p.Asp538Val
XM_011517848.1:c.1355A>T XP_011516150.1:p.Asp452Val
XM_011517849.1:c.1582-79A>T XP_011516151.1:n.1582-79A>T
XR_929232.1:n.1836-79A>T
XR_929233.1:n.1836-79A>T
XR_929235.1:n.1578-79A>T
XM_006716758.3:c.1070A>T XP_006716821.1:p.Asp357Val
XM_011517846.2:c.1613A>T XP_011516148.1:p.Asp538Val
XM_011517847.3:c.1613A>T XP_011516149.1:p.Asp538Val
XM_011517848.2:c.1355A>T XP_011516150.1:p.Asp452Val
XM_011517849.2:c.1582-79A>T XP_011516151.1:n.1582-79A>T
XM_017014625.2:c.1343A>T XP_016870114.1:p.Asp448Val
XR_002956774.1:n.1783-79A>T
XR_929232.2:n.1783-79A>T
XR_929233.2:n.1783-79A>T
NM_012144.4:c.1601A>T MANE Select NP_036276.1:p.Asp534Val
NM_001281428.2:c.1613A>T NP_001268357.1:p.Asp538Val