Canonical Allele Identifier: CA373266091

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1490637
• ClinVar RCV Id: RCV001983838
• dbSNP Id: rs2132086408
• MyVariant Identifiers: chr9:g.34517281A>G (hg19) ; chr9:g.34517283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517283A>G , CM000671.2:g.34517283A>G	GRCh38
NC_000009.11:g.34517281A>G , CM000671.1:g.34517281A>G	GRCh37
NC_000009.10:g.34507281A>G	NCBI36
NG_008127.1:g.63471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-2A>G MANE Select	ENSP00000242317.4:n.1819-2A>G
ENST00000242317.8:c.1819-2A>G	ENSP00000242317.4:n.1819-2A>G
ENST00000442556.1:c.329+2544A>G
ENST00000470169.5:c.607-2A>G
ENST00000485580.1:n.395-2A>G
ENST00000614641.4:c.1831-2A>G	ENSP00000480538.1:n.1831-2A>G
NM_001281428.1:c.1831-2A>G	NP_001268357.1:n.1831-2A>G
NM_012144.3:c.1819-2A>G	NP_036276.1:n.1819-2A>G
XM_006716758.2:c.1288-2A>G	XP_006716821.1:n.1288-2A>G
XM_011517848.1:c.1573-2A>G	XP_011516150.1:n.1573-2A>G
XM_006716758.3:c.1288-2A>G	XP_006716821.1:n.1288-2A>G
XM_011517848.2:c.1573-2A>G	XP_011516150.1:n.1573-2A>G
XM_017014625.2:c.1561-2A>G	XP_016870114.1:n.1561-2A>G
XR_002956774.1:n.1922-2A>G
NM_012144.4:c.1819-2A>G MANE Select	NP_036276.1:n.1819-2A>G
NM_001281428.2:c.1831-2A>G	NP_001268357.1:n.1831-2A>G