Canonical Allele Identifier: CA464398363

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2791844
• ClinVar RCV Id: RCV003647318
• MyVariant Identifiers: chr9:g.34517363C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517365C>T , CM000671.2:g.34517365C>T	GRCh38
NC_000009.11:g.34517363C>T , CM000671.1:g.34517363C>T	GRCh37
NC_000009.10:g.34507363C>T	NCBI36
NG_008127.1:g.63553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1899C>T MANE Select	ENSP00000242317.4:p.Thr633=
ENST00000242317.8:c.1899C>T	ENSP00000242317.4:p.Thr633=
ENST00000442556.1:c.329+2626C>T
ENST00000470169.5:c.687C>T
ENST00000485580.1:n.475C>T
ENST00000614641.4:c.1911C>T	ENSP00000480538.1:p.Thr637=
NM_001281428.1:c.1911C>T	NP_001268357.1:p.Thr637=
NM_012144.3:c.1899C>T	NP_036276.1:p.Thr633=
XM_006716758.2:c.1368C>T	XP_006716821.1:p.Thr456=
XM_011517848.1:c.1653C>T	XP_011516150.1:p.Thr551=
XM_006716758.3:c.1368C>T	XP_006716821.1:p.Thr456=
XM_011517848.2:c.1653C>T	XP_011516150.1:p.Thr551=
XM_017014625.2:c.1641C>T	XP_016870114.1:p.Thr547=
XR_002956774.1:n.2002C>T
NM_012144.4:c.1899C>T MANE Select	NP_036276.1:p.Thr633=
NM_001281428.2:c.1911C>T	NP_001268357.1:p.Thr637=