Canonical Allele Identifier: CA5034598

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 260203
• ClinVar RCV Id: RCV000245845 ; RCV002058232
• dbSNP Id: rs144066349
• ExAC: 9:34517484 T / A
• gnomAD v2: 9-34517484-T-A
• gnomAD v3: 9-34517486-T-A
• gnomAD v4: 9-34517486-T-A
• MyVariant Identifiers: chr9:g.34517484T>A (hg19) ; chr9:g.34517486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517486T>A , CM000671.2:g.34517486T>A	GRCh38
NC_000009.11:g.34517484T>A , CM000671.1:g.34517484T>A	GRCh37
NC_000009.10:g.34507484T>A	NCBI36
NG_008127.1:g.63674T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+19T>A MANE Select	ENSP00000242317.4:n.2001+19T>A
ENST00000242317.8:c.2001+19T>A	ENSP00000242317.4:n.2001+19T>A
ENST00000442556.1:c.329+2747T>A
ENST00000614641.4:c.2013+19T>A	ENSP00000480538.1:n.2013+19T>A
NM_001281428.1:c.2013+19T>A	NP_001268357.1:n.2013+19T>A
NM_012144.3:c.2001+19T>A	NP_036276.1:n.2001+19T>A
XM_006716758.2:c.1470+19T>A	XP_006716821.1:n.1470+19T>A
XM_011517848.1:c.1755+19T>A	XP_011516150.1:n.1755+19T>A
XM_006716758.3:c.1470+19T>A	XP_006716821.1:n.1470+19T>A
XM_011517848.2:c.1755+19T>A	XP_011516150.1:n.1755+19T>A
XM_017014625.2:c.1743+19T>A	XP_016870114.1:n.1743+19T>A
XR_002956774.1:n.2104+19T>A
NM_012144.4:c.2001+19T>A MANE Select	NP_036276.1:n.2001+19T>A
NM_001281428.2:c.2013+19T>A	NP_001268357.1:n.2013+19T>A