Canonical Allele Identifier: CA373266299
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517304C>A , CM000671.2:g.34517304C>A GRCh38
NC_000009.11:g.34517302C>A , CM000671.1:g.34517302C>A GRCh37
NC_000009.10:g.34507302C>A NCBI36
NG_008127.1:g.63492C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1838C>A MANE Select ENSP00000242317.4:p.Ala613Asp
ENST00000242317.8:c.1838C>A ENSP00000242317.4:p.Ala613Asp
ENST00000442556.1:c.329+2565C>A
ENST00000470169.5:c.626C>A
ENST00000485580.1:n.414C>A
ENST00000614641.4:c.1850C>A ENSP00000480538.1:p.Ala617Asp
NM_001281428.1:c.1850C>A NP_001268357.1:p.Ala617Asp
NM_012144.3:c.1838C>A NP_036276.1:p.Ala613Asp
XM_006716758.2:c.1307C>A XP_006716821.1:p.Ala436Asp
XM_011517848.1:c.1592C>A XP_011516150.1:p.Ala531Asp
XM_006716758.3:c.1307C>A XP_006716821.1:p.Ala436Asp
XM_011517848.2:c.1592C>A XP_011516150.1:p.Ala531Asp
XM_017014625.2:c.1580C>A XP_016870114.1:p.Ala527Asp
XR_002956774.1:n.1941C>A
NM_012144.4:c.1838C>A MANE Select NP_036276.1:p.Ala613Asp
NM_001281428.2:c.1850C>A NP_001268357.1:p.Ala617Asp