Canonical Allele Identifier: CA5033945

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 260201
• ClinVar RCV Id: RCV000250505 ; RCV000538706 ; RCV001753725
• dbSNP Id: rs201120508
• ExAC: 9:34485238 G / A
• gnomAD v2: 9-34485238-G-A
• gnomAD v3: 9-34485240-G-A
• gnomAD v4: 9-34485240-G-A
• MyVariant Identifiers: chr9:g.34485238G>A (hg19) ; chr9:g.34485240G>A (hg38)

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=