Canonical Allele Identifier: CA1845599425
Community Standard Title: NM_012144.4(DNAI1):c.1307G= (p.Trp436=)
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506870G= , CM000671.2:g.34506870G= GRCh38
NC_000009.11:g.34506868G= , CM000671.1:g.34506868G= GRCh37
NC_000009.10:g.34496868G= NCBI36
NG_008127.1:g.53058G=

Transcript Alleles

HGVS Amino-acid Change
NM_012144.4:c.1307G= MANE Select NP_036276.1:p.Trp436=
ENST00000242317.9:c.1307G= MANE Select ENSP00000242317.4:p.Trp436=
NM_001281428.1:c.1319G= NP_001268357.1:p.Trp440=
NM_001281428.2:c.1319G= NP_001268357.1:p.Trp440=
NM_012144.3:c.1307G= NP_036276.1:p.Trp436=
ENST00000242317.8:c.1307G= ENSP00000242317.4:p.Trp436=
ENST00000470169.5:c.244G=
ENST00000614641.4:c.1319G= ENSP00000480538.1:p.Trp440=
XM_006716758.2:c.776G= XP_006716821.1:p.Trp259=
XM_006716758.3:c.776G= XP_006716821.1:p.Trp259=
XM_011517846.1:c.1319G= XP_011516148.1:p.Trp440=
XM_011517846.2:c.1319G= XP_011516148.1:p.Trp440=
XM_011517847.1:c.1319G= XP_011516149.1:p.Trp440=
XM_011517847.3:c.1319G= XP_011516149.1:p.Trp440=
XM_011517848.1:c.1319G= XP_011516150.1:p.Trp440=
XM_011517848.2:c.1319G= XP_011516150.1:p.Trp440=
XM_011517849.1:c.1319G= XP_011516151.1:p.Trp440=
XM_011517849.2:c.1319G= XP_011516151.1:p.Trp440=
XM_011517850.1:c.1319G= XP_011516152.1:p.Trp440=
XM_011517850.3:c.1319G= XP_011516152.1:p.Trp440=
XM_017014625.2:c.1307G= XP_016870114.1:p.Trp436=
XR_002956774.1:n.1520G=
XR_929232.1:n.1573G=
XR_929232.2:n.1520G=
XR_929233.1:n.1573G=
XR_929233.2:n.1520G=
XR_929235.1:n.1573G=