Canonical Allele Identifier: CA5033862

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 366683
• ClinVar RCV Id: RCV000323592
• dbSNP Id: rs200245894
• ExAC: 9:34458963 T / C
• gnomAD v2: 9-34458963-T-C
• gnomAD v3: 9-34458965-T-C
• gnomAD v4: 9-34458965-T-C
• MyVariant Identifiers: chr9:g.34458963T>C (hg19) ; chr9:g.34458965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34458965T>C , CM000671.2:g.34458965T>C	GRCh38
NC_000009.11:g.34458963T>C , CM000671.1:g.34458963T>C	GRCh37
NC_000009.10:g.34448963T>C	NCBI36
NG_008127.1:g.5153T>C
NG_027971.1:g.4606A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.-41T>C MANE Select	ENSP00000242317.4:n.-41T>C
ENST00000242317.8:c.-41T>C	ENSP00000242317.4:n.-41T>C
ENST00000437363.5:c.-41T>C	ENSP00000395396.1:n.-41T>C
ENST00000470982.5:n.47+1505T>C
ENST00000614641.4:c.-41T>C	ENSP00000480538.1:n.-41T>C
NM_001281428.1:c.-41T>C	NP_001268357.1:n.-41T>C
NM_012144.3:c.-41T>C	NP_036276.1:n.-41T>C
XM_011517846.1:c.-41T>C	XP_011516148.1:n.-41T>C
XM_011517847.1:c.-41T>C	XP_011516149.1:n.-41T>C
XM_011517848.1:c.-41T>C	XP_011516150.1:n.-41T>C
XM_011517849.1:c.-41T>C	XP_011516151.1:n.-41T>C
XM_011517850.1:c.-41T>C	XP_011516152.1:n.-41T>C
XR_929232.1:n.214T>C
XR_929233.1:n.214T>C
XR_929235.1:n.214T>C
XM_011517846.2:c.-41T>C	XP_011516148.1:n.-41T>C
XM_011517847.3:c.-41T>C	XP_011516149.1:n.-41T>C
XM_011517848.2:c.-41T>C	XP_011516150.1:n.-41T>C
XM_011517849.2:c.-41T>C	XP_011516151.1:n.-41T>C
XM_011517850.3:c.-41T>C	XP_011516152.1:n.-41T>C
XM_017014625.2:c.-41T>C	XP_016870114.1:n.-41T>C
XR_002956774.1:n.161T>C
XR_929232.2:n.161T>C
XR_929233.2:n.161T>C
NM_012144.4:c.-41T>C MANE Select	NP_036276.1:n.-41T>C
NM_001281428.2:c.-41T>C	NP_001268357.1:n.-41T>C