Canonical Allele Identifier: CA2689798681
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34517490-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517490C>T , CM000671.2:g.34517490C>T GRCh38
NC_000009.11:g.34517488C>T , CM000671.1:g.34517488C>T GRCh37
NC_000009.10:g.34507488C>T NCBI36
NG_008127.1:g.63678C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242317.9:c.2001+23C>T MANE Select ENSP00000242317.4:n.2001+23C>T
ENST00000242317.8:c.2001+23C>T ENSP00000242317.4:n.2001+23C>T
ENST00000442556.1:c.329+2751C>T
ENST00000614641.4:c.2013+23C>T ENSP00000480538.1:n.2013+23C>T
NM_001281428.1:c.2013+23C>T NP_001268357.1:n.2013+23C>T
NM_012144.3:c.2001+23C>T NP_036276.1:n.2001+23C>T
XM_006716758.2:c.1470+23C>T XP_006716821.1:n.1470+23C>T
XM_011517848.1:c.1755+23C>T XP_011516150.1:n.1755+23C>T
XM_006716758.3:c.1470+23C>T XP_006716821.1:n.1470+23C>T
XM_011517848.2:c.1755+23C>T XP_011516150.1:n.1755+23C>T
XM_017014625.2:c.1743+23C>T XP_016870114.1:n.1743+23C>T
XR_002956774.1:n.2104+23C>T
NM_012144.4:c.2001+23C>T MANE Select NP_036276.1:n.2001+23C>T
NM_001281428.2:c.2013+23C>T NP_001268357.1:n.2013+23C>T