Canonical Allele Identifier: CA5034249

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 525418
• ClinVar RCV Id: RCV000629474 ; RCV003424200
• dbSNP Id: rs747121305
• ExAC: 9:34500842 G / C
• gnomAD v2: 9-34500842-G-C
• gnomAD v3: 9-34500844-G-C
• gnomAD v4: 9-34500844-G-C
• MyVariant Identifiers: chr9:g.34500842G>C (hg19) ; chr9:g.34500844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34500844G>C , CM000671.2:g.34500844G>C	GRCh38
NC_000009.11:g.34500842G>C , CM000671.1:g.34500842G>C	GRCh37
NC_000009.10:g.34490842G>C	NCBI36
NG_008127.1:g.47032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1019+5G>C MANE Select	ENSP00000242317.4:n.1019+5G>C
ENST00000242317.8:c.1019+5G>C	ENSP00000242317.4:n.1019+5G>C
ENST00000614641.4:c.1031+5G>C	ENSP00000480538.1:n.1031+5G>C
NM_001281428.1:c.1031+5G>C	NP_001268357.1:n.1031+5G>C
NM_012144.3:c.1019+5G>C	NP_036276.1:n.1019+5G>C
XM_006716758.2:c.488+5G>C	XP_006716821.1:n.488+5G>C
XM_011517846.1:c.1031+5G>C	XP_011516148.1:n.1031+5G>C
XM_011517847.1:c.1031+5G>C	XP_011516149.1:n.1031+5G>C
XM_011517848.1:c.1031+5G>C	XP_011516150.1:n.1031+5G>C
XM_011517849.1:c.1031+5G>C	XP_011516151.1:n.1031+5G>C
XM_011517850.1:c.1031+5G>C	XP_011516152.1:n.1031+5G>C
XR_929232.1:n.1285+5G>C
XR_929233.1:n.1285+5G>C
XR_929235.1:n.1285+5G>C
XM_006716758.3:c.488+5G>C	XP_006716821.1:n.488+5G>C
XM_011517846.2:c.1031+5G>C	XP_011516148.1:n.1031+5G>C
XM_011517847.3:c.1031+5G>C	XP_011516149.1:n.1031+5G>C
XM_011517848.2:c.1031+5G>C	XP_011516150.1:n.1031+5G>C
XM_011517849.2:c.1031+5G>C	XP_011516151.1:n.1031+5G>C
XM_011517850.3:c.1031+5G>C	XP_011516152.1:n.1031+5G>C
XM_017014625.2:c.1019+5G>C	XP_016870114.1:n.1019+5G>C
XR_002956774.1:n.1232+5G>C
XR_929232.2:n.1232+5G>C
XR_929233.2:n.1232+5G>C
NM_012144.4:c.1019+5G>C MANE Select	NP_036276.1:n.1019+5G>C
NM_001281428.2:c.1031+5G>C	NP_001268357.1:n.1031+5G>C