Canonical Allele Identifier: CA373257740

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2318433
• ClinVar RCV Id: RCV004157718
• MyVariant Identifiers: chr9:g.34506858G>C (hg19) ; chr9:g.34506860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506860G>C , CM000671.2:g.34506860G>C	GRCh38
NC_000009.11:g.34506858G>C , CM000671.1:g.34506858G>C	GRCh37
NC_000009.10:g.34496858G>C	NCBI36
NG_008127.1:g.53048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1297G>C MANE Select	ENSP00000242317.4:p.Asp433His
ENST00000242317.8:c.1297G>C	ENSP00000242317.4:p.Asp433His
ENST00000470169.5:c.234G>C
ENST00000614641.4:c.1309G>C	ENSP00000480538.1:p.Asp437His
NM_001281428.1:c.1309G>C	NP_001268357.1:p.Asp437His
NM_012144.3:c.1297G>C	NP_036276.1:p.Asp433His
XM_006716758.2:c.766G>C	XP_006716821.1:p.Asp256His
XM_011517846.1:c.1309G>C	XP_011516148.1:p.Asp437His
XM_011517847.1:c.1309G>C	XP_011516149.1:p.Asp437His
XM_011517848.1:c.1309G>C	XP_011516150.1:p.Asp437His
XM_011517849.1:c.1309G>C	XP_011516151.1:p.Asp437His
XM_011517850.1:c.1309G>C	XP_011516152.1:p.Asp437His
XR_929232.1:n.1563G>C
XR_929233.1:n.1563G>C
XR_929235.1:n.1563G>C
XM_006716758.3:c.766G>C	XP_006716821.1:p.Asp256His
XM_011517846.2:c.1309G>C	XP_011516148.1:p.Asp437His
XM_011517847.3:c.1309G>C	XP_011516149.1:p.Asp437His
XM_011517848.2:c.1309G>C	XP_011516150.1:p.Asp437His
XM_011517849.2:c.1309G>C	XP_011516151.1:p.Asp437His
XM_011517850.3:c.1309G>C	XP_011516152.1:p.Asp437His
XM_017014625.2:c.1297G>C	XP_016870114.1:p.Asp433His
XR_002956774.1:n.1510G>C
XR_929232.2:n.1510G>C
XR_929233.2:n.1510G>C
NM_012144.4:c.1297G>C MANE Select	NP_036276.1:p.Asp433His
NM_001281428.2:c.1309G>C	NP_001268357.1:p.Asp437His