Canonical Allele Identifier: CA5034414

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 366692
• ClinVar RCV Id: RCV000291502 ; RCV001484320
• dbSNP Id: rs547508610
• ExAC: 9:34512430 C / A
• gnomAD v2: 9-34512430-C-A
• gnomAD v3: 9-34512432-C-A
• gnomAD v4: 9-34512432-C-A
• MyVariant Identifiers: chr9:g.34512430C>A (hg19) ; chr9:g.34512432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34512432C>A , CM000671.2:g.34512432C>A	GRCh38
NC_000009.11:g.34512430C>A , CM000671.1:g.34512430C>A	GRCh37
NC_000009.10:g.34502430C>A	NCBI36
NG_008127.1:g.58620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1489+8C>A MANE Select	ENSP00000242317.4:n.1489+8C>A
ENST00000242317.8:c.1489+8C>A	ENSP00000242317.4:n.1489+8C>A
ENST00000470169.5:c.426+8C>A
ENST00000614641.4:c.1501+8C>A	ENSP00000480538.1:n.1501+8C>A
NM_001281428.1:c.1501+8C>A	NP_001268357.1:n.1501+8C>A
NM_012144.3:c.1489+8C>A	NP_036276.1:n.1489+8C>A
XM_006716758.2:c.958+8C>A	XP_006716821.1:n.958+8C>A
XM_011517846.1:c.1501+8C>A	XP_011516148.1:n.1501+8C>A
XM_011517847.1:c.1501+8C>A	XP_011516149.1:n.1501+8C>A
XM_011517848.1:c.1324-1962C>A	XP_011516150.1:n.1324-1962C>A
XM_011517849.1:c.1501+8C>A	XP_011516151.1:n.1501+8C>A
XR_929232.1:n.1755+8C>A
XR_929233.1:n.1755+8C>A
XR_929235.1:n.1578-2072C>A
XM_006716758.3:c.958+8C>A	XP_006716821.1:n.958+8C>A
XM_011517846.2:c.1501+8C>A	XP_011516148.1:n.1501+8C>A
XM_011517847.3:c.1501+8C>A	XP_011516149.1:n.1501+8C>A
XM_011517848.2:c.1324-1962C>A	XP_011516150.1:n.1324-1962C>A
XM_011517849.2:c.1501+8C>A	XP_011516151.1:n.1501+8C>A
XM_017014625.2:c.1312-1962C>A	XP_016870114.1:n.1312-1962C>A
XR_002956774.1:n.1702+8C>A
XR_929232.2:n.1702+8C>A
XR_929233.2:n.1702+8C>A
NM_012144.4:c.1489+8C>A MANE Select	NP_036276.1:n.1489+8C>A
NM_001281428.2:c.1501+8C>A	NP_001268357.1:n.1501+8C>A