Canonical Allele Identifier: CA373244592

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 3226201
• ClinVar RCV Id: RCV004519436
• dbSNP Id: rs1824534808
• gnomAD v4: 9-34489365-G-A
• MyVariant Identifiers: chr9:g.34489363G>A (hg19) ; chr9:g.34489365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489365G>A , CM000671.2:g.34489365G>A	GRCh38
NC_000009.11:g.34489363G>A , CM000671.1:g.34489363G>A	GRCh37
NC_000009.10:g.34479363G>A	NCBI36
NG_008127.1:g.35553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.304G>A MANE Select	ENSP00000242317.4:p.Val102Ile
ENST00000242317.8:c.304G>A	ENSP00000242317.4:p.Val102Ile
ENST00000437363.5:c.271G>A	ENSP00000395396.1:p.Val91Ile
ENST00000488369.1:n.420G>A
ENST00000614641.4:c.304G>A	ENSP00000480538.1:p.Val102Ile
NM_001281428.1:c.304G>A	NP_001268357.1:p.Val102Ile
NM_012144.3:c.304G>A	NP_036276.1:p.Val102Ile
XM_011517846.1:c.304G>A	XP_011516148.1:p.Val102Ile
XM_011517847.1:c.304G>A	XP_011516149.1:p.Val102Ile
XM_011517848.1:c.304G>A	XP_011516150.1:p.Val102Ile
XM_011517849.1:c.304G>A	XP_011516151.1:p.Val102Ile
XM_011517850.1:c.304G>A	XP_011516152.1:p.Val102Ile
XR_929232.1:n.558G>A
XR_929233.1:n.558G>A
XR_929235.1:n.558G>A
XM_006716758.3:c.-173G>A	XP_006716821.1:n.-173G>A
XM_011517846.2:c.304G>A	XP_011516148.1:p.Val102Ile
XM_011517847.3:c.304G>A	XP_011516149.1:p.Val102Ile
XM_011517848.2:c.304G>A	XP_011516150.1:p.Val102Ile
XM_011517849.2:c.304G>A	XP_011516151.1:p.Val102Ile
XM_011517850.3:c.304G>A	XP_011516152.1:p.Val102Ile
XM_017014625.2:c.304G>A	XP_016870114.1:p.Val102Ile
XR_002956774.1:n.505G>A
XR_929232.2:n.505G>A
XR_929233.2:n.505G>A
NM_012144.4:c.304G>A MANE Select	NP_036276.1:p.Val102Ile
NM_001281428.2:c.304G>A	NP_001268357.1:p.Val102Ile