Canonical Allele Identifier: CA2838823533
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517492G>T , CM000671.2:g.34517492G>T GRCh38
NC_000009.11:g.34517490G>T , CM000671.1:g.34517490G>T GRCh37
NC_000009.10:g.34507490G>T NCBI36
NG_008127.1:g.63680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.2001+25G>T MANE Select ENSP00000242317.4:n.2001+25G>T
ENST00000242317.8:c.2001+25G>T ENSP00000242317.4:n.2001+25G>T
ENST00000442556.1:c.329+2753G>T
ENST00000614641.4:c.2013+25G>T ENSP00000480538.1:n.2013+25G>T
NM_001281428.1:c.2013+25G>T NP_001268357.1:n.2013+25G>T
NM_012144.3:c.2001+25G>T NP_036276.1:n.2001+25G>T
XM_006716758.2:c.1470+25G>T XP_006716821.1:n.1470+25G>T
XM_011517848.1:c.1755+25G>T XP_011516150.1:n.1755+25G>T
XM_006716758.3:c.1470+25G>T XP_006716821.1:n.1470+25G>T
XM_011517848.2:c.1755+25G>T XP_011516150.1:n.1755+25G>T
XM_017014625.2:c.1743+25G>T XP_016870114.1:n.1743+25G>T
XR_002956774.1:n.2104+25G>T
NM_012144.4:c.2001+25G>T MANE Select NP_036276.1:n.2001+25G>T
NM_001281428.2:c.2013+25G>T NP_001268357.1:n.2013+25G>T