Canonical Allele Identifier: CA587567967

Gene: DNAI1

Linked Data

• dbSNP Id: rs1347533189
• gnomAD v2: 9-34517273-C-A
• gnomAD v3: 9-34517275-C-A
• gnomAD v4: 9-34517275-C-A
• MyVariant Identifiers: chr9:g.34517273C>A (hg19) ; chr9:g.34517275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517275C>A , CM000671.2:g.34517275C>A	GRCh38
NC_000009.11:g.34517273C>A , CM000671.1:g.34517273C>A	GRCh37
NC_000009.10:g.34507273C>A	NCBI36
NG_008127.1:g.63463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-10C>A MANE Select	ENSP00000242317.4:n.1819-10C>A
ENST00000242317.8:c.1819-10C>A	ENSP00000242317.4:n.1819-10C>A
ENST00000442556.1:c.329+2536C>A
ENST00000470169.5:c.607-10C>A
ENST00000485580.1:n.395-10C>A
ENST00000614641.4:c.1831-10C>A	ENSP00000480538.1:n.1831-10C>A
NM_001281428.1:c.1831-10C>A	NP_001268357.1:n.1831-10C>A
NM_012144.3:c.1819-10C>A	NP_036276.1:n.1819-10C>A
XM_006716758.2:c.1288-10C>A	XP_006716821.1:n.1288-10C>A
XM_011517847.1:c.*45C>A	XP_011516149.1:n.*45C>A
XM_011517848.1:c.1573-10C>A	XP_011516150.1:n.1573-10C>A
XR_929233.1:n.2055C>A
XM_006716758.3:c.1288-10C>A	XP_006716821.1:n.1288-10C>A
XM_011517847.3:c.*45C>A	XP_011516149.1:n.*45C>A
XM_011517848.2:c.1573-10C>A	XP_011516150.1:n.1573-10C>A
XM_017014625.2:c.1561-10C>A	XP_016870114.1:n.1561-10C>A
XR_002956774.1:n.1922-10C>A
XR_929233.2:n.2002C>A
NM_012144.4:c.1819-10C>A MANE Select	NP_036276.1:n.1819-10C>A
NM_001281428.2:c.1831-10C>A	NP_001268357.1:n.1831-10C>A