Canonical Allele Identifier: CA863462603
Gene: DNAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1439658466
gnomAD v3: 9-34517095-T-C
gnomAD v4: 9-34517095-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517095T>C , CM000671.2:g.34517095T>C GRCh38
NC_000009.11:g.34517093T>C , CM000671.1:g.34517093T>C GRCh37
NC_000009.10:g.34507093T>C NCBI36
NG_008127.1:g.63283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1819-190T>C MANE Select ENSP00000242317.4:n.1819-190T>C
ENST00000242317.8:c.1819-190T>C ENSP00000242317.4:n.1819-190T>C
ENST00000442556.1:c.329+2356T>C
ENST00000470169.5:c.607-190T>C
ENST00000485580.1:n.395-190T>C
ENST00000614641.4:c.1831-190T>C ENSP00000480538.1:n.1831-190T>C
NM_001281428.1:c.1831-190T>C NP_001268357.1:n.1831-190T>C
NM_012144.3:c.1819-190T>C NP_036276.1:n.1819-190T>C
XM_006716758.2:c.1288-190T>C XP_006716821.1:n.1288-190T>C
XM_011517847.1:c.1831-100T>C XP_011516149.1:n.1831-100T>C
XM_011517848.1:c.1573-190T>C XP_011516150.1:n.1573-190T>C
XR_929233.1:n.1975-100T>C
XM_006716758.3:c.1288-190T>C XP_006716821.1:n.1288-190T>C
XM_011517847.3:c.1831-100T>C XP_011516149.1:n.1831-100T>C
XM_011517848.2:c.1573-190T>C XP_011516150.1:n.1573-190T>C
XM_017014625.2:c.1561-190T>C XP_016870114.1:n.1561-190T>C
XR_002956774.1:n.1922-190T>C
XR_929233.2:n.1922-100T>C
NM_012144.4:c.1819-190T>C MANE Select NP_036276.1:n.1819-190T>C
NM_001281428.2:c.1831-190T>C NP_001268357.1:n.1831-190T>C