Canonical Allele Identifier: CA863463069

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1077204
• ClinVar RCV Id: RCV001391705
• dbSNP Id: rs1237431260
• gnomAD v4: 9-34517477-C-G
• MyVariant Identifiers: chr9:g.34517475C>G (hg19) ; chr9:g.34517477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517477C>G , CM000671.2:g.34517477C>G	GRCh38
NC_000009.11:g.34517475C>G , CM000671.1:g.34517475C>G	GRCh37
NC_000009.10:g.34507475C>G	NCBI36
NG_008127.1:g.63665C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+10C>G MANE Select	ENSP00000242317.4:n.2001+10C>G
ENST00000242317.8:c.2001+10C>G	ENSP00000242317.4:n.2001+10C>G
ENST00000442556.1:c.329+2738C>G
ENST00000614641.4:c.2013+10C>G	ENSP00000480538.1:n.2013+10C>G
NM_001281428.1:c.2013+10C>G	NP_001268357.1:n.2013+10C>G
NM_012144.3:c.2001+10C>G	NP_036276.1:n.2001+10C>G
XM_006716758.2:c.1470+10C>G	XP_006716821.1:n.1470+10C>G
XM_011517848.1:c.1755+10C>G	XP_011516150.1:n.1755+10C>G
XM_006716758.3:c.1470+10C>G	XP_006716821.1:n.1470+10C>G
XM_011517848.2:c.1755+10C>G	XP_011516150.1:n.1755+10C>G
XM_017014625.2:c.1743+10C>G	XP_016870114.1:n.1743+10C>G
XR_002956774.1:n.2104+10C>G
NM_012144.4:c.2001+10C>G MANE Select	NP_036276.1:n.2001+10C>G
NM_001281428.2:c.2013+10C>G	NP_001268357.1:n.2013+10C>G