Canonical Allele Identifier: CA373266140

Gene: DNAI1

Linked Data

• dbSNP Id: rs1206500478
• gnomAD v2: 9-34517284-C-T
• gnomAD v4: 9-34517286-C-T
• MyVariant Identifiers: chr9:g.34517284C>T (hg19) ; chr9:g.34517286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517286C>T , CM000671.2:g.34517286C>T	GRCh38
NC_000009.11:g.34517284C>T , CM000671.1:g.34517284C>T	GRCh37
NC_000009.10:g.34507284C>T	NCBI36
NG_008127.1:g.63474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1820C>T MANE Select	ENSP00000242317.4:p.Ala607Val
ENST00000242317.8:c.1820C>T	ENSP00000242317.4:p.Ala607Val
ENST00000442556.1:c.329+2547C>T
ENST00000470169.5:c.608C>T
ENST00000485580.1:n.396C>T
ENST00000614641.4:c.1832C>T	ENSP00000480538.1:p.Ala611Val
NM_001281428.1:c.1832C>T	NP_001268357.1:p.Ala611Val
NM_012144.3:c.1820C>T	NP_036276.1:p.Ala607Val
XM_006716758.2:c.1289C>T	XP_006716821.1:p.Ala430Val
XM_011517848.1:c.1574C>T	XP_011516150.1:p.Ala525Val
XM_006716758.3:c.1289C>T	XP_006716821.1:p.Ala430Val
XM_011517848.2:c.1574C>T	XP_011516150.1:p.Ala525Val
XM_017014625.2:c.1562C>T	XP_016870114.1:p.Ala521Val
XR_002956774.1:n.1923C>T
NM_012144.4:c.1820C>T MANE Select	NP_036276.1:p.Ala607Val
NM_001281428.2:c.1832C>T	NP_001268357.1:p.Ala611Val