Canonical Allele Identifier: CA5033945
Gene: DNAI1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.34485240G>A
GRCh37 chr9:g.34485238G>A
gnomAD v2:
9:34485238 G / A
gnomAD v3:
9:34485240 G / A
gnomAD v4:
chr9-34485240-G-A
Joint Max Group AF 0.00012284 (AFR)
Genomes Max Group AF 0.00013049 (AFR)
Exomes Max Group AF 0.0000786 (NFE)
ClinVar Allele:
253510
ClinVar RCV:
RCV000250505
RCV000538706
RCV001753725
ClinVar Variation:
260201
dbSNP:
201120508
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34485240G>A , CM000671.2:g.34485240G>A GRCh38
NC_000009.11:g.34485238G>A , CM000671.1:g.34485238G>A GRCh37
NC_000009.10:g.34475238G>A NCBI36
NG_008127.1:g.31428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.180G>A MANE Select ENSP00000242317.4:p.Ala60=
ENST00000242317.8:c.180G>A ENSP00000242317.4:p.Ala60=
ENST00000437363.5:c.147G>A ENSP00000395396.1:p.Ala49=
ENST00000470982.5:n.179G>A
ENST00000488369.1:n.195G>A
ENST00000614641.4:c.180G>A ENSP00000480538.1:p.Ala60=
NM_001281428.1:c.180G>A NP_001268357.1:p.Ala60=
NM_012144.3:c.180G>A NP_036276.1:p.Ala60=
XM_011517846.1:c.180G>A XP_011516148.1:p.Ala60=
XM_011517847.1:c.180G>A XP_011516149.1:p.Ala60=
XM_011517848.1:c.180G>A XP_011516150.1:p.Ala60=
XM_011517849.1:c.180G>A XP_011516151.1:p.Ala60=
XM_011517850.1:c.180G>A XP_011516152.1:p.Ala60=
XR_929232.1:n.434G>A
XR_929233.1:n.434G>A
XR_929235.1:n.434G>A
XM_006716758.3:c.-297G>A XP_006716821.1:n.-297G>A
XM_011517846.2:c.180G>A XP_011516148.1:p.Ala60=
XM_011517847.3:c.180G>A XP_011516149.1:p.Ala60=
XM_011517848.2:c.180G>A XP_011516150.1:p.Ala60=
XM_011517849.2:c.180G>A XP_011516151.1:p.Ala60=
XM_011517850.3:c.180G>A XP_011516152.1:p.Ala60=
XM_017014625.2:c.180G>A XP_016870114.1:p.Ala60=
XR_002956774.1:n.381G>A
XR_929232.2:n.381G>A
XR_929233.2:n.381G>A
NM_012144.4:c.180G>A MANE Select NP_036276.1:p.Ala60=
NM_001281428.2:c.180G>A NP_001268357.1:p.Ala60=
Search 100 bp 5'
Search 100 bp 3'