Canonical Allele Identifier: CA5034269

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 366689
• ClinVar RCV Id: RCV000360963 ; RCV003650576
• dbSNP Id: rs777973486
• ExAC: 9:34501122 A / T
• gnomAD v2: 9-34501122-A-T
• gnomAD v3: 9-34501124-A-T
• gnomAD v4: 9-34501124-A-T
• MyVariant Identifiers: chr9:g.34501122A>T (hg19) ; chr9:g.34501122_34501123delinsTT (hg19) ; chr9:g.34501124A>T (hg38) ; chr9:g.34501124_34501125delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34501124A>T , CM000671.2:g.34501124A>T	GRCh38
NC_000009.11:g.34501122A>T , CM000671.1:g.34501122A>T	GRCh37
NC_000009.10:g.34491122A>T	NCBI36
NG_008127.1:g.47312A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1020-14A>T MANE Select	ENSP00000242317.4:n.1020-14A>T
ENST00000242317.8:c.1020-14A>T	ENSP00000242317.4:n.1020-14A>T
ENST00000614641.4:c.1032-14A>T	ENSP00000480538.1:n.1032-14A>T
NM_001281428.1:c.1032-14A>T	NP_001268357.1:n.1032-14A>T
NM_012144.3:c.1020-14A>T	NP_036276.1:n.1020-14A>T
XM_006716758.2:c.489-14A>T	XP_006716821.1:n.489-14A>T
XM_011517846.1:c.1032-14A>T	XP_011516148.1:n.1032-14A>T
XM_011517847.1:c.1032-14A>T	XP_011516149.1:n.1032-14A>T
XM_011517848.1:c.1032-14A>T	XP_011516150.1:n.1032-14A>T
XM_011517849.1:c.1032-14A>T	XP_011516151.1:n.1032-14A>T
XM_011517850.1:c.1032-14A>T	XP_011516152.1:n.1032-14A>T
XR_929232.1:n.1286-14A>T
XR_929233.1:n.1286-14A>T
XR_929235.1:n.1286-14A>T
XM_006716758.3:c.489-14A>T	XP_006716821.1:n.489-14A>T
XM_011517846.2:c.1032-14A>T	XP_011516148.1:n.1032-14A>T
XM_011517847.3:c.1032-14A>T	XP_011516149.1:n.1032-14A>T
XM_011517848.2:c.1032-14A>T	XP_011516150.1:n.1032-14A>T
XM_011517849.2:c.1032-14A>T	XP_011516151.1:n.1032-14A>T
XM_011517850.3:c.1032-14A>T	XP_011516152.1:n.1032-14A>T
XM_017014625.2:c.1020-14A>T	XP_016870114.1:n.1020-14A>T
XR_002956774.1:n.1233-14A>T
XR_929232.2:n.1233-14A>T
XR_929233.2:n.1233-14A>T
NM_012144.4:c.1020-14A>T MANE Select	NP_036276.1:n.1020-14A>T
NM_001281428.2:c.1032-14A>T	NP_001268357.1:n.1032-14A>T