Canonical Allele Identifier: CA5034584

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 240855
• ClinVar RCV Id: RCV000226585 ; RCV000667669
• dbSNP Id: rs146434058
• ExAC: 9:34517393 C / A
• gnomAD v2: 9-34517393-C-A
• gnomAD v3: 9-34517395-C-A
• gnomAD v4: 9-34517395-C-A
• MyVariant Identifiers: chr9:g.34517393C>A (hg19) ; chr9:g.34517395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517395C>A , CM000671.2:g.34517395C>A	GRCh38
NC_000009.11:g.34517393C>A , CM000671.1:g.34517393C>A	GRCh37
NC_000009.10:g.34507393C>A	NCBI36
NG_008127.1:g.63583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1929C>A MANE Select	ENSP00000242317.4:p.Ile643=
ENST00000242317.8:c.1929C>A	ENSP00000242317.4:p.Ile643=
ENST00000442556.1:c.329+2656C>A
ENST00000470169.5:c.717C>A
ENST00000485580.1:n.505C>A
ENST00000614641.4:c.1941C>A	ENSP00000480538.1:p.Ile647=
NM_001281428.1:c.1941C>A	NP_001268357.1:p.Ile647=
NM_012144.3:c.1929C>A	NP_036276.1:p.Ile643=
XM_006716758.2:c.1398C>A	XP_006716821.1:p.Ile466=
XM_011517848.1:c.1683C>A	XP_011516150.1:p.Ile561=
XM_006716758.3:c.1398C>A	XP_006716821.1:p.Ile466=
XM_011517848.2:c.1683C>A	XP_011516150.1:p.Ile561=
XM_017014625.2:c.1671C>A	XP_016870114.1:p.Ile557=
XR_002956774.1:n.2032C>A
NM_012144.4:c.1929C>A MANE Select	NP_036276.1:p.Ile643=
NM_001281428.2:c.1941C>A	NP_001268357.1:p.Ile647=