Canonical Allele Identifier: CA373266588
Gene: DNAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517343C>G , CM000671.2:g.34517343C>G GRCh38
NC_000009.11:g.34517341C>G , CM000671.1:g.34517341C>G GRCh37
NC_000009.10:g.34507341C>G NCBI36
NG_008127.1:g.63531C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1877C>G MANE Select ENSP00000242317.4:p.Ala626Gly
ENST00000242317.8:c.1877C>G ENSP00000242317.4:p.Ala626Gly
ENST00000442556.1:c.329+2604C>G
ENST00000470169.5:c.665C>G
ENST00000485580.1:n.453C>G
ENST00000614641.4:c.1889C>G ENSP00000480538.1:p.Ala630Gly
NM_001281428.1:c.1889C>G NP_001268357.1:p.Ala630Gly
NM_012144.3:c.1877C>G NP_036276.1:p.Ala626Gly
XM_006716758.2:c.1346C>G XP_006716821.1:p.Ala449Gly
XM_011517848.1:c.1631C>G XP_011516150.1:p.Ala544Gly
XM_006716758.3:c.1346C>G XP_006716821.1:p.Ala449Gly
XM_011517848.2:c.1631C>G XP_011516150.1:p.Ala544Gly
XM_017014625.2:c.1619C>G XP_016870114.1:p.Ala540Gly
XR_002956774.1:n.1980C>G
NM_012144.4:c.1877C>G MANE Select NP_036276.1:p.Ala626Gly
NM_001281428.2:c.1889C>G NP_001268357.1:p.Ala630Gly