Canonical Allele Identifier: CA5034559

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2911871
• ClinVar RCV Id: RCV003652791
• dbSNP Id: rs779487812
• ExAC: 9:34517269 C / T
• gnomAD v2: 9-34517269-C-T
• gnomAD v3: 9-34517271-C-T
• gnomAD v4: 9-34517271-C-T
• MyVariant Identifiers: chr9:g.34517269C>T (hg19) ; chr9:g.34517271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517271C>T , CM000671.2:g.34517271C>T	GRCh38
NC_000009.11:g.34517269C>T , CM000671.1:g.34517269C>T	GRCh37
NC_000009.10:g.34507269C>T	NCBI36
NG_008127.1:g.63459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-14C>T MANE Select	ENSP00000242317.4:n.1819-14C>T
ENST00000242317.8:c.1819-14C>T	ENSP00000242317.4:n.1819-14C>T
ENST00000442556.1:c.329+2532C>T
ENST00000470169.5:c.607-14C>T
ENST00000485580.1:n.395-14C>T
ENST00000614641.4:c.1831-14C>T	ENSP00000480538.1:n.1831-14C>T
NM_001281428.1:c.1831-14C>T	NP_001268357.1:n.1831-14C>T
NM_012144.3:c.1819-14C>T	NP_036276.1:n.1819-14C>T
XM_006716758.2:c.1288-14C>T	XP_006716821.1:n.1288-14C>T
XM_011517847.1:c.*41C>T	XP_011516149.1:n.*41C>T
XM_011517848.1:c.1573-14C>T	XP_011516150.1:n.1573-14C>T
XR_929233.1:n.2051C>T
XM_006716758.3:c.1288-14C>T	XP_006716821.1:n.1288-14C>T
XM_011517847.3:c.*41C>T	XP_011516149.1:n.*41C>T
XM_011517848.2:c.1573-14C>T	XP_011516150.1:n.1573-14C>T
XM_017014625.2:c.1561-14C>T	XP_016870114.1:n.1561-14C>T
XR_002956774.1:n.1922-14C>T
XR_929233.2:n.1998C>T
NM_012144.4:c.1819-14C>T MANE Select	NP_036276.1:n.1819-14C>T
NM_001281428.2:c.1831-14C>T	NP_001268357.1:n.1831-14C>T