Canonical Allele Identifier: CA464398322

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1121659
• ClinVar RCV Id: RCV001451993
• dbSNP Id: rs2132086418
• MyVariant Identifiers: chr9:g.34517285C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517287C>T , CM000671.2:g.34517287C>T	GRCh38
NC_000009.11:g.34517285C>T , CM000671.1:g.34517285C>T	GRCh37
NC_000009.10:g.34507285C>T	NCBI36
NG_008127.1:g.63475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1821C>T MANE Select	ENSP00000242317.4:p.Ala607=
ENST00000242317.8:c.1821C>T	ENSP00000242317.4:p.Ala607=
ENST00000442556.1:c.329+2548C>T
ENST00000470169.5:c.609C>T
ENST00000485580.1:n.397C>T
ENST00000614641.4:c.1833C>T	ENSP00000480538.1:p.Ala611=
NM_001281428.1:c.1833C>T	NP_001268357.1:p.Ala611=
NM_012144.3:c.1821C>T	NP_036276.1:p.Ala607=
XM_006716758.2:c.1290C>T	XP_006716821.1:p.Ala430=
XM_011517848.1:c.1575C>T	XP_011516150.1:p.Ala525=
XM_006716758.3:c.1290C>T	XP_006716821.1:p.Ala430=
XM_011517848.2:c.1575C>T	XP_011516150.1:p.Ala525=
XM_017014625.2:c.1563C>T	XP_016870114.1:p.Ala521=
XR_002956774.1:n.1924C>T
NM_012144.4:c.1821C>T MANE Select	NP_036276.1:p.Ala607=
NM_001281428.2:c.1833C>T	NP_001268357.1:p.Ala611=