Canonical Allele Identifier: CA5034009

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 226608
• ClinVar RCV Id: RCV000229436 ; RCV000216144 ; RCV001707555
• dbSNP Id: rs77344166
• ExAC: 9:34489356 A / G
• gnomAD v2: 9-34489356-A-G
• gnomAD v3: 9-34489358-A-G
• gnomAD v4: 9-34489358-A-G
• MyVariant Identifiers: chr9:g.34489356A>G (hg19) ; chr9:g.34489358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489358A>G , CM000671.2:g.34489358A>G	GRCh38
NC_000009.11:g.34489356A>G , CM000671.1:g.34489356A>G	GRCh37
NC_000009.10:g.34479356A>G	NCBI36
NG_008127.1:g.35546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.297A>G MANE Select	ENSP00000242317.4:p.Gln99=
ENST00000242317.8:c.297A>G	ENSP00000242317.4:p.Gln99=
ENST00000437363.5:c.264A>G	ENSP00000395396.1:p.Gln88=
ENST00000488369.1:n.413A>G
ENST00000614641.4:c.297A>G	ENSP00000480538.1:p.Gln99=
NM_001281428.1:c.297A>G	NP_001268357.1:p.Gln99=
NM_012144.3:c.297A>G	NP_036276.1:p.Gln99=
XM_011517846.1:c.297A>G	XP_011516148.1:p.Gln99=
XM_011517847.1:c.297A>G	XP_011516149.1:p.Gln99=
XM_011517848.1:c.297A>G	XP_011516150.1:p.Gln99=
XM_011517849.1:c.297A>G	XP_011516151.1:p.Gln99=
XM_011517850.1:c.297A>G	XP_011516152.1:p.Gln99=
XR_929232.1:n.551A>G
XR_929233.1:n.551A>G
XR_929235.1:n.551A>G
XM_006716758.3:c.-180A>G	XP_006716821.1:n.-180A>G
XM_011517846.2:c.297A>G	XP_011516148.1:p.Gln99=
XM_011517847.3:c.297A>G	XP_011516149.1:p.Gln99=
XM_011517848.2:c.297A>G	XP_011516150.1:p.Gln99=
XM_011517849.2:c.297A>G	XP_011516151.1:p.Gln99=
XM_011517850.3:c.297A>G	XP_011516152.1:p.Gln99=
XM_017014625.2:c.297A>G	XP_016870114.1:p.Gln99=
XR_002956774.1:n.498A>G
XR_929232.2:n.498A>G
XR_929233.2:n.498A>G
NM_012144.4:c.297A>G MANE Select	NP_036276.1:p.Gln99=
NM_001281428.2:c.297A>G	NP_001268357.1:p.Gln99=