Canonical Allele Identifier: CA182956

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 178761
• ClinVar RCV Id: RCV000155521 ; RCV000377917 ; RCV001719973
• dbSNP Id: rs11547035
• ExAC: 9:34459025 G / T
• gnomAD v2: 9-34459025-G-T
• gnomAD v3: 9-34459027-G-T
• gnomAD v4: 9-34459027-G-T
• MyVariant Identifiers: chr9:g.34459025G>T (hg19) ; chr9:g.34459027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34459027G>T , CM000671.2:g.34459027G>T	GRCh38
NC_000009.11:g.34459025G>T , CM000671.1:g.34459025G>T	GRCh37
NC_000009.10:g.34449025G>T	NCBI36
NG_008127.1:g.5215G>T
NG_027971.1:g.4544C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.22G>T MANE Select	ENSP00000242317.4:p.Ala8Ser
ENST00000242317.8:c.22G>T	ENSP00000242317.4:p.Ala8Ser
ENST00000437363.5:c.22G>T	ENSP00000395396.1:p.Ala8Ser
ENST00000470982.5:n.47+1567G>T
ENST00000614641.4:c.22G>T	ENSP00000480538.1:p.Ala8Ser
NM_001281428.1:c.22G>T	NP_001268357.1:p.Ala8Ser
NM_012144.3:c.22G>T	NP_036276.1:p.Ala8Ser
XM_011517846.1:c.22G>T	XP_011516148.1:p.Ala8Ser
XM_011517847.1:c.22G>T	XP_011516149.1:p.Ala8Ser
XM_011517848.1:c.22G>T	XP_011516150.1:p.Ala8Ser
XM_011517849.1:c.22G>T	XP_011516151.1:p.Ala8Ser
XM_011517850.1:c.22G>T	XP_011516152.1:p.Ala8Ser
XR_929232.1:n.276G>T
XR_929233.1:n.276G>T
XR_929235.1:n.276G>T
XM_011517846.2:c.22G>T	XP_011516148.1:p.Ala8Ser
XM_011517847.3:c.22G>T	XP_011516149.1:p.Ala8Ser
XM_011517848.2:c.22G>T	XP_011516150.1:p.Ala8Ser
XM_011517849.2:c.22G>T	XP_011516151.1:p.Ala8Ser
XM_011517850.3:c.22G>T	XP_011516152.1:p.Ala8Ser
XM_017014625.2:c.22G>T	XP_016870114.1:p.Ala8Ser
XR_002956774.1:n.223G>T
XR_929232.2:n.223G>T
XR_929233.2:n.223G>T
NM_012144.4:c.22G>T MANE Select	NP_036276.1:p.Ala8Ser
NM_001281428.2:c.22G>T	NP_001268357.1:p.Ala8Ser