Canonical Allele Identifier: CA5034436

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 525536
• ClinVar RCV Id: RCV000629613 ; RCV001169803
• dbSNP Id: rs148238282
• ExAC: 9:34513143 T / C
• gnomAD v2: 9-34513143-T-C
• gnomAD v3: 9-34513145-T-C
• gnomAD v4: 9-34513145-T-C
• MyVariant Identifiers: chr9:g.34513143T>C (hg19) ; chr9:g.34513145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513145T>C , CM000671.2:g.34513145T>C	GRCh38
NC_000009.11:g.34513143T>C , CM000671.1:g.34513143T>C	GRCh37
NC_000009.10:g.34503143T>C	NCBI36
NG_008127.1:g.59333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1523T>C MANE Select	ENSP00000242317.4:p.Ile508Thr
ENST00000242317.8:c.1523T>C	ENSP00000242317.4:p.Ile508Thr
ENST00000442556.1:c.34T>C
ENST00000470169.5:c.460T>C
ENST00000485580.1:n.2T>C
ENST00000614641.4:c.1535T>C	ENSP00000480538.1:p.Ile512Thr
NM_001281428.1:c.1535T>C	NP_001268357.1:p.Ile512Thr
NM_012144.3:c.1523T>C	NP_036276.1:p.Ile508Thr
XM_006716758.2:c.992T>C	XP_006716821.1:p.Ile331Thr
XM_011517846.1:c.1535T>C	XP_011516148.1:p.Ile512Thr
XM_011517847.1:c.1535T>C	XP_011516149.1:p.Ile512Thr
XM_011517848.1:c.1324-1249T>C	XP_011516150.1:n.1324-1249T>C
XM_011517849.1:c.1535T>C	XP_011516151.1:p.Ile512Thr
XR_929232.1:n.1789T>C
XR_929233.1:n.1789T>C
XR_929235.1:n.1578-1359T>C
XM_006716758.3:c.992T>C	XP_006716821.1:p.Ile331Thr
XM_011517846.2:c.1535T>C	XP_011516148.1:p.Ile512Thr
XM_011517847.3:c.1535T>C	XP_011516149.1:p.Ile512Thr
XM_011517848.2:c.1324-1249T>C	XP_011516150.1:n.1324-1249T>C
XM_011517849.2:c.1535T>C	XP_011516151.1:p.Ile512Thr
XM_017014625.2:c.1312-1249T>C	XP_016870114.1:n.1312-1249T>C
XR_002956774.1:n.1736T>C
XR_929232.2:n.1736T>C
XR_929233.2:n.1736T>C
NM_012144.4:c.1523T>C MANE Select	NP_036276.1:p.Ile508Thr
NM_001281428.2:c.1535T>C	NP_001268357.1:p.Ile512Thr