Canonical Allele Identifier: CA175822

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 163166
• ClinVar RCV Id: RCV000150497 ; RCV000673602
• dbSNP Id: rs727502978
• gnomAD v4: 9-34517291-A-T
• MyVariant Identifiers: chr9:g.34517289A>T (hg19) ; chr9:g.34517291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517291A>T , CM000671.2:g.34517291A>T	GRCh38
NC_000009.11:g.34517289A>T , CM000671.1:g.34517289A>T	GRCh37
NC_000009.10:g.34507289A>T	NCBI36
NG_008127.1:g.63479A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1825A>T MANE Select	ENSP00000242317.4:p.Ile609Leu
ENST00000242317.8:c.1825A>T	ENSP00000242317.4:p.Ile609Leu
ENST00000442556.1:c.329+2552A>T
ENST00000470169.5:c.613A>T
ENST00000485580.1:n.401A>T
ENST00000614641.4:c.1837A>T	ENSP00000480538.1:p.Ile613Leu
NM_001281428.1:c.1837A>T	NP_001268357.1:p.Ile613Leu
NM_012144.3:c.1825A>T	NP_036276.1:p.Ile609Leu
XM_006716758.2:c.1294A>T	XP_006716821.1:p.Ile432Leu
XM_011517848.1:c.1579A>T	XP_011516150.1:p.Ile527Leu
XM_006716758.3:c.1294A>T	XP_006716821.1:p.Ile432Leu
XM_011517848.2:c.1579A>T	XP_011516150.1:p.Ile527Leu
XM_017014625.2:c.1567A>T	XP_016870114.1:p.Ile523Leu
XR_002956774.1:n.1928A>T
NM_012144.4:c.1825A>T MANE Select	NP_036276.1:p.Ile609Leu
NM_001281428.2:c.1837A>T	NP_001268357.1:p.Ile613Leu