Canonical Allele Identifier: CA5034487

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 240854
• ClinVar RCV Id: RCV000231603 ; RCV000763195
• dbSNP Id: rs200669099
• ExAC: 9:34514466 G / A
• gnomAD v2: 9-34514466-G-A
• gnomAD v3: 9-34514468-G-A
• gnomAD v4: 9-34514468-G-A
• MyVariant Identifiers: chr9:g.34514466G>A (hg19) ; chr9:g.34514468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514468G>A , CM000671.2:g.34514468G>A	GRCh38
NC_000009.11:g.34514466G>A , CM000671.1:g.34514466G>A	GRCh37
NC_000009.10:g.34504466G>A	NCBI36
NG_008127.1:g.60656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1644G>A MANE Select	ENSP00000242317.4:p.Trp548Ter
ENST00000242317.8:c.1644G>A	ENSP00000242317.4:p.Trp548Ter
ENST00000442556.1:c.155G>A
ENST00000470169.5:c.507-172G>A
ENST00000485580.1:n.123G>A
ENST00000614641.4:c.1656G>A	ENSP00000480538.1:p.Trp552Ter
NM_001281428.1:c.1656G>A	NP_001268357.1:p.Trp552Ter
NM_012144.3:c.1644G>A	NP_036276.1:p.Trp548Ter
XM_006716758.2:c.1113G>A	XP_006716821.1:p.Trp371Ter
XM_011517846.1:c.1656G>A	XP_011516148.1:p.Trp552Ter
XM_011517847.1:c.1656G>A	XP_011516149.1:p.Trp552Ter
XM_011517848.1:c.1398G>A	XP_011516150.1:p.Trp466Ter
XM_011517849.1:c.1582-36G>A	XP_011516151.1:n.1582-36G>A
XR_929232.1:n.1836-36G>A
XR_929233.1:n.1836-36G>A
XR_929235.1:n.1578-36G>A
XM_006716758.3:c.1113G>A	XP_006716821.1:p.Trp371Ter
XM_011517846.2:c.1656G>A	XP_011516148.1:p.Trp552Ter
XM_011517847.3:c.1656G>A	XP_011516149.1:p.Trp552Ter
XM_011517848.2:c.1398G>A	XP_011516150.1:p.Trp466Ter
XM_011517849.2:c.1582-36G>A	XP_011516151.1:n.1582-36G>A
XM_017014625.2:c.1386G>A	XP_016870114.1:p.Trp462Ter
XR_002956774.1:n.1783-36G>A
XR_929232.2:n.1783-36G>A
XR_929233.2:n.1783-36G>A
NM_012144.4:c.1644G>A MANE Select	NP_036276.1:p.Trp548Ter
NM_001281428.2:c.1656G>A	NP_001268357.1:p.Trp552Ter