Canonical Allele Identifier: CA464398349

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2809215
• ClinVar RCV Id: RCV003647665
• MyVariant Identifiers: chr9:g.34517339G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517341G>T , CM000671.2:g.34517341G>T	GRCh38
NC_000009.11:g.34517339G>T , CM000671.1:g.34517339G>T	GRCh37
NC_000009.10:g.34507339G>T	NCBI36
NG_008127.1:g.63529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1875G>T MANE Select	ENSP00000242317.4:p.Val625=
ENST00000242317.8:c.1875G>T	ENSP00000242317.4:p.Val625=
ENST00000442556.1:c.329+2602G>T
ENST00000470169.5:c.663G>T
ENST00000485580.1:n.451G>T
ENST00000614641.4:c.1887G>T	ENSP00000480538.1:p.Val629=
NM_001281428.1:c.1887G>T	NP_001268357.1:p.Val629=
NM_012144.3:c.1875G>T	NP_036276.1:p.Val625=
XM_006716758.2:c.1344G>T	XP_006716821.1:p.Val448=
XM_011517848.1:c.1629G>T	XP_011516150.1:p.Val543=
XM_006716758.3:c.1344G>T	XP_006716821.1:p.Val448=
XM_011517848.2:c.1629G>T	XP_011516150.1:p.Val543=
XM_017014625.2:c.1617G>T	XP_016870114.1:p.Val539=
XR_002956774.1:n.1978G>T
NM_012144.4:c.1875G>T MANE Select	NP_036276.1:p.Val625=
NM_001281428.2:c.1887G>T	NP_001268357.1:p.Val629=