Canonical Allele Identifier: CA2689798630

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517204-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517204A>G , CM000671.2:g.34517204A>G	GRCh38
NC_000009.11:g.34517202A>G , CM000671.1:g.34517202A>G	GRCh37
NC_000009.10:g.34507202A>G	NCBI36
NG_008127.1:g.63392A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-81A>G MANE Select	ENSP00000242317.4:n.1819-81A>G
ENST00000242317.8:c.1819-81A>G	ENSP00000242317.4:n.1819-81A>G
ENST00000442556.1:c.329+2465A>G
ENST00000470169.5:c.607-81A>G
ENST00000485580.1:n.395-81A>G
ENST00000614641.4:c.1831-81A>G	ENSP00000480538.1:n.1831-81A>G
NM_001281428.1:c.1831-81A>G	NP_001268357.1:n.1831-81A>G
NM_012144.3:c.1819-81A>G	NP_036276.1:n.1819-81A>G
XM_006716758.2:c.1288-81A>G	XP_006716821.1:n.1288-81A>G
XM_011517847.1:c.1840A>G	XP_011516149.1:p.Arg614Gly
XM_011517848.1:c.1573-81A>G	XP_011516150.1:n.1573-81A>G
XR_929233.1:n.1984A>G
XM_006716758.3:c.1288-81A>G	XP_006716821.1:n.1288-81A>G
XM_011517847.3:c.1840A>G	XP_011516149.1:p.Arg614Gly
XM_011517848.2:c.1573-81A>G	XP_011516150.1:n.1573-81A>G
XM_017014625.2:c.1561-81A>G	XP_016870114.1:n.1561-81A>G
XR_002956774.1:n.1922-81A>G
XR_929233.2:n.1931A>G
NM_012144.4:c.1819-81A>G MANE Select	NP_036276.1:n.1819-81A>G
NM_001281428.2:c.1831-81A>G	NP_001268357.1:n.1831-81A>G