Canonical Allele Identifier: CA373266828

Gene: DNAI1

Linked Data

• dbSNP Id: rs1463071173
• gnomAD v2: 9-34517397-A-G
• gnomAD v4: 9-34517399-A-G
• MyVariant Identifiers: chr9:g.34517397A>G (hg19) ; chr9:g.34517399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517399A>G , CM000671.2:g.34517399A>G	GRCh38
NC_000009.11:g.34517397A>G , CM000671.1:g.34517397A>G	GRCh37
NC_000009.10:g.34507397A>G	NCBI36
NG_008127.1:g.63587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1933A>G MANE Select	ENSP00000242317.4:p.Ile645Val
ENST00000242317.8:c.1933A>G	ENSP00000242317.4:p.Ile645Val
ENST00000442556.1:c.329+2660A>G
ENST00000470169.5:c.721A>G
ENST00000485580.1:n.509A>G
ENST00000614641.4:c.1945A>G	ENSP00000480538.1:p.Ile649Val
NM_001281428.1:c.1945A>G	NP_001268357.1:p.Ile649Val
NM_012144.3:c.1933A>G	NP_036276.1:p.Ile645Val
XM_006716758.2:c.1402A>G	XP_006716821.1:p.Ile468Val
XM_011517848.1:c.1687A>G	XP_011516150.1:p.Ile563Val
XM_006716758.3:c.1402A>G	XP_006716821.1:p.Ile468Val
XM_011517848.2:c.1687A>G	XP_011516150.1:p.Ile563Val
XM_017014625.2:c.1675A>G	XP_016870114.1:p.Ile559Val
XR_002956774.1:n.2036A>G
NM_012144.4:c.1933A>G MANE Select	NP_036276.1:p.Ile645Val
NM_001281428.2:c.1945A>G	NP_001268357.1:p.Ile649Val