Canonical Allele Identifier: CA863462628
Gene: DNAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1276476604
gnomAD v3: 9-34517131-G-A
gnomAD v4: 9-34517131-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517131G>A , CM000671.2:g.34517131G>A GRCh38
NC_000009.11:g.34517129G>A , CM000671.1:g.34517129G>A GRCh37
NC_000009.10:g.34507129G>A NCBI36
NG_008127.1:g.63319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1819-154G>A MANE Select ENSP00000242317.4:n.1819-154G>A
ENST00000242317.8:c.1819-154G>A ENSP00000242317.4:n.1819-154G>A
ENST00000442556.1:c.329+2392G>A
ENST00000470169.5:c.607-154G>A
ENST00000485580.1:n.395-154G>A
ENST00000614641.4:c.1831-154G>A ENSP00000480538.1:n.1831-154G>A
NM_001281428.1:c.1831-154G>A NP_001268357.1:n.1831-154G>A
NM_012144.3:c.1819-154G>A NP_036276.1:n.1819-154G>A
XM_006716758.2:c.1288-154G>A XP_006716821.1:n.1288-154G>A
XM_011517847.1:c.1831-64G>A XP_011516149.1:n.1831-64G>A
XM_011517848.1:c.1573-154G>A XP_011516150.1:n.1573-154G>A
XR_929233.1:n.1975-64G>A
XM_006716758.3:c.1288-154G>A XP_006716821.1:n.1288-154G>A
XM_011517847.3:c.1831-64G>A XP_011516149.1:n.1831-64G>A
XM_011517848.2:c.1573-154G>A XP_011516150.1:n.1573-154G>A
XM_017014625.2:c.1561-154G>A XP_016870114.1:n.1561-154G>A
XR_002956774.1:n.1922-154G>A
XR_929233.2:n.1922-64G>A
NM_012144.4:c.1819-154G>A MANE Select NP_036276.1:n.1819-154G>A
NM_001281428.2:c.1831-154G>A NP_001268357.1:n.1831-154G>A