Canonical Allele Identifier: CA5033878

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 228610
• ClinVar RCV Id: RCV000216654 ; RCV000458049 ; RCV003977620
• dbSNP Id: rs148701985
• ExAC: 9:34459050 A / G
• gnomAD v2: 9-34459050-A-G
• gnomAD v3: 9-34459052-A-G
• gnomAD v4: 9-34459052-A-G
• MyVariant Identifiers: chr9:g.34459050A>G (hg19) ; chr9:g.34459052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34459052A>G , CM000671.2:g.34459052A>G	GRCh38
NC_000009.11:g.34459050A>G , CM000671.1:g.34459050A>G	GRCh37
NC_000009.10:g.34449050A>G	NCBI36
NG_008127.1:g.5240A>G
NG_027971.1:g.4519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.47A>G MANE Select	ENSP00000242317.4:p.Gln16Arg
ENST00000242317.8:c.47A>G	ENSP00000242317.4:p.Gln16Arg
ENST00000437363.5:c.47A>G	ENSP00000395396.1:p.Gln16Arg
ENST00000470982.5:n.47+1592A>G
ENST00000614641.4:c.47A>G	ENSP00000480538.1:p.Gln16Arg
NM_001281428.1:c.47A>G	NP_001268357.1:p.Gln16Arg
NM_012144.3:c.47A>G	NP_036276.1:p.Gln16Arg
XM_011517846.1:c.47A>G	XP_011516148.1:p.Gln16Arg
XM_011517847.1:c.47A>G	XP_011516149.1:p.Gln16Arg
XM_011517848.1:c.47A>G	XP_011516150.1:p.Gln16Arg
XM_011517849.1:c.47A>G	XP_011516151.1:p.Gln16Arg
XM_011517850.1:c.47A>G	XP_011516152.1:p.Gln16Arg
XR_929232.1:n.301A>G
XR_929233.1:n.301A>G
XR_929235.1:n.301A>G
XM_011517846.2:c.47A>G	XP_011516148.1:p.Gln16Arg
XM_011517847.3:c.47A>G	XP_011516149.1:p.Gln16Arg
XM_011517848.2:c.47A>G	XP_011516150.1:p.Gln16Arg
XM_011517849.2:c.47A>G	XP_011516151.1:p.Gln16Arg
XM_011517850.3:c.47A>G	XP_011516152.1:p.Gln16Arg
XM_017014625.2:c.47A>G	XP_016870114.1:p.Gln16Arg
XR_002956774.1:n.248A>G
XR_929232.2:n.248A>G
XR_929233.2:n.248A>G
NM_012144.4:c.47A>G MANE Select	NP_036276.1:p.Gln16Arg
NM_001281428.2:c.47A>G	NP_001268357.1:p.Gln16Arg