Canonical Allele Identifier: CA464398355

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2141313
• ClinVar RCV Id: RCV003073918
• dbSNP Id: rs1318402837
• gnomAD v2: 9-34517351-G-A
• gnomAD v3: 9-34517353-G-A
• gnomAD v4: 9-34517353-G-A
• COSMIC: COSM4532461
• MyVariant Identifiers: chr9:g.34517351G>A (hg19) ; chr9:g.34517353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517353G>A , CM000671.2:g.34517353G>A	GRCh38
NC_000009.11:g.34517351G>A , CM000671.1:g.34517351G>A	GRCh37
NC_000009.10:g.34507351G>A	NCBI36
NG_008127.1:g.63541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1887G>A MANE Select	ENSP00000242317.4:p.Lys629=
ENST00000242317.8:c.1887G>A	ENSP00000242317.4:p.Lys629=
ENST00000442556.1:c.329+2614G>A
ENST00000470169.5:c.675G>A
ENST00000485580.1:n.463G>A
ENST00000614641.4:c.1899G>A	ENSP00000480538.1:p.Lys633=
NM_001281428.1:c.1899G>A	NP_001268357.1:p.Lys633=
NM_012144.3:c.1887G>A	NP_036276.1:p.Lys629=
XM_006716758.2:c.1356G>A	XP_006716821.1:p.Lys452=
XM_011517848.1:c.1641G>A	XP_011516150.1:p.Lys547=
XM_006716758.3:c.1356G>A	XP_006716821.1:p.Lys452=
XM_011517848.2:c.1641G>A	XP_011516150.1:p.Lys547=
XM_017014625.2:c.1629G>A	XP_016870114.1:p.Lys543=
XR_002956774.1:n.1990G>A
NM_012144.4:c.1887G>A MANE Select	NP_036276.1:p.Lys629=
NM_001281428.2:c.1899G>A	NP_001268357.1:p.Lys633=