Canonical Allele Identifier: CA373257265
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506799C>A , CM000671.2:g.34506799C>A GRCh38
NC_000009.11:g.34506797C>A , CM000671.1:g.34506797C>A GRCh37
NC_000009.10:g.34496797C>A NCBI36
NG_008127.1:g.52987C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1236C>A MANE Select ENSP00000242317.4:p.Asn412Lys
ENST00000242317.8:c.1236C>A ENSP00000242317.4:p.Asn412Lys
ENST00000470169.5:c.173C>A
ENST00000614641.4:c.1248C>A ENSP00000480538.1:p.Asn416Lys
NM_001281428.1:c.1248C>A NP_001268357.1:p.Asn416Lys
NM_012144.3:c.1236C>A NP_036276.1:p.Asn412Lys
XM_006716758.2:c.705C>A XP_006716821.1:p.Asn235Lys
XM_011517846.1:c.1248C>A XP_011516148.1:p.Asn416Lys
XM_011517847.1:c.1248C>A XP_011516149.1:p.Asn416Lys
XM_011517848.1:c.1248C>A XP_011516150.1:p.Asn416Lys
XM_011517849.1:c.1248C>A XP_011516151.1:p.Asn416Lys
XM_011517850.1:c.1248C>A XP_011516152.1:p.Asn416Lys
XR_929232.1:n.1502C>A
XR_929233.1:n.1502C>A
XR_929235.1:n.1502C>A
XM_006716758.3:c.705C>A XP_006716821.1:p.Asn235Lys
XM_011517846.2:c.1248C>A XP_011516148.1:p.Asn416Lys
XM_011517847.3:c.1248C>A XP_011516149.1:p.Asn416Lys
XM_011517848.2:c.1248C>A XP_011516150.1:p.Asn416Lys
XM_011517849.2:c.1248C>A XP_011516151.1:p.Asn416Lys
XM_011517850.3:c.1248C>A XP_011516152.1:p.Asn416Lys
XM_017014625.2:c.1236C>A XP_016870114.1:p.Asn412Lys
XR_002956774.1:n.1449C>A
XR_929232.2:n.1449C>A
XR_929233.2:n.1449C>A
NM_012144.4:c.1236C>A MANE Select NP_036276.1:p.Asn412Lys
NM_001281428.2:c.1248C>A NP_001268357.1:p.Asn416Lys