Canonical Allele Identifier: CA373266204

Gene: DNAI1

Linked Data

• dbSNP Id: rs1231996646
• gnomAD v2: 9-34517291-A-G
• gnomAD v4: 9-34517293-A-G
• MyVariant Identifiers: chr9:g.34517291A>G (hg19) ; chr9:g.34517293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517293A>G , CM000671.2:g.34517293A>G	GRCh38
NC_000009.11:g.34517291A>G , CM000671.1:g.34517291A>G	GRCh37
NC_000009.10:g.34507291A>G	NCBI36
NG_008127.1:g.63481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1827A>G MANE Select	ENSP00000242317.4:p.Ile609Met
ENST00000242317.8:c.1827A>G	ENSP00000242317.4:p.Ile609Met
ENST00000442556.1:c.329+2554A>G
ENST00000470169.5:c.615A>G
ENST00000485580.1:n.403A>G
ENST00000614641.4:c.1839A>G	ENSP00000480538.1:p.Ile613Met
NM_001281428.1:c.1839A>G	NP_001268357.1:p.Ile613Met
NM_012144.3:c.1827A>G	NP_036276.1:p.Ile609Met
XM_006716758.2:c.1296A>G	XP_006716821.1:p.Ile432Met
XM_011517848.1:c.1581A>G	XP_011516150.1:p.Ile527Met
XM_006716758.3:c.1296A>G	XP_006716821.1:p.Ile432Met
XM_011517848.2:c.1581A>G	XP_011516150.1:p.Ile527Met
XM_017014625.2:c.1569A>G	XP_016870114.1:p.Ile523Met
XR_002956774.1:n.1930A>G
NM_012144.4:c.1827A>G MANE Select	NP_036276.1:p.Ile609Met
NM_001281428.2:c.1839A>G	NP_001268357.1:p.Ile613Met