Canonical Allele Identifier: CA5034572

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1118517
• ClinVar RCV Id: RCV001447646
• dbSNP Id: rs544254178
• ExAC: 9:34517348 A / G
• gnomAD v2: 9-34517348-A-G
• gnomAD v3: 9-34517350-A-G
• gnomAD v4: 9-34517350-A-G
• MyVariant Identifiers: chr9:g.34517348A>G (hg19) ; chr9:g.34517350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517350A>G , CM000671.2:g.34517350A>G	GRCh38
NC_000009.11:g.34517348A>G , CM000671.1:g.34517348A>G	GRCh37
NC_000009.10:g.34507348A>G	NCBI36
NG_008127.1:g.63538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1884A>G MANE Select	ENSP00000242317.4:p.Lys628=
ENST00000242317.8:c.1884A>G	ENSP00000242317.4:p.Lys628=
ENST00000442556.1:c.329+2611A>G
ENST00000470169.5:c.672A>G
ENST00000485580.1:n.460A>G
ENST00000614641.4:c.1896A>G	ENSP00000480538.1:p.Lys632=
NM_001281428.1:c.1896A>G	NP_001268357.1:p.Lys632=
NM_012144.3:c.1884A>G	NP_036276.1:p.Lys628=
XM_006716758.2:c.1353A>G	XP_006716821.1:p.Lys451=
XM_011517848.1:c.1638A>G	XP_011516150.1:p.Lys546=
XM_006716758.3:c.1353A>G	XP_006716821.1:p.Lys451=
XM_011517848.2:c.1638A>G	XP_011516150.1:p.Lys546=
XM_017014625.2:c.1626A>G	XP_016870114.1:p.Lys542=
XR_002956774.1:n.1987A>G
NM_012144.4:c.1884A>G MANE Select	NP_036276.1:p.Lys628=
NM_001281428.2:c.1896A>G	NP_001268357.1:p.Lys632=