Canonical Allele Identifier: CA464394695

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1100639
• ClinVar RCV Id: RCV001423305
• dbSNP Id: rs1824534447
• MyVariant Identifiers: chr9:g.34489350G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489352G>T , CM000671.2:g.34489352G>T	GRCh38
NC_000009.11:g.34489350G>T , CM000671.1:g.34489350G>T	GRCh37
NC_000009.10:g.34479350G>T	NCBI36
NG_008127.1:g.35540G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.291G>T MANE Select	ENSP00000242317.4:p.Val97=
ENST00000242317.8:c.291G>T	ENSP00000242317.4:p.Val97=
ENST00000437363.5:c.258G>T	ENSP00000395396.1:p.Val86=
ENST00000488369.1:n.407G>T
ENST00000614641.4:c.291G>T	ENSP00000480538.1:p.Val97=
NM_001281428.1:c.291G>T	NP_001268357.1:p.Val97=
NM_012144.3:c.291G>T	NP_036276.1:p.Val97=
XM_011517846.1:c.291G>T	XP_011516148.1:p.Val97=
XM_011517847.1:c.291G>T	XP_011516149.1:p.Val97=
XM_011517848.1:c.291G>T	XP_011516150.1:p.Val97=
XM_011517849.1:c.291G>T	XP_011516151.1:p.Val97=
XM_011517850.1:c.291G>T	XP_011516152.1:p.Val97=
XR_929232.1:n.545G>T
XR_929233.1:n.545G>T
XR_929235.1:n.545G>T
XM_006716758.3:c.-186G>T	XP_006716821.1:n.-186G>T
XM_011517846.2:c.291G>T	XP_011516148.1:p.Val97=
XM_011517847.3:c.291G>T	XP_011516149.1:p.Val97=
XM_011517848.2:c.291G>T	XP_011516150.1:p.Val97=
XM_011517849.2:c.291G>T	XP_011516151.1:p.Val97=
XM_011517850.3:c.291G>T	XP_011516152.1:p.Val97=
XM_017014625.2:c.291G>T	XP_016870114.1:p.Val97=
XR_002956774.1:n.492G>T
XR_929232.2:n.492G>T
XR_929233.2:n.492G>T
NM_012144.4:c.291G>T MANE Select	NP_036276.1:p.Val97=
NM_001281428.2:c.291G>T	NP_001268357.1:p.Val97=