Canonical Allele Identifier: CA373266573

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517338T>A (hg19) ; chr9:g.34517340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517340T>A , CM000671.2:g.34517340T>A	GRCh38
NC_000009.11:g.34517338T>A , CM000671.1:g.34517338T>A	GRCh37
NC_000009.10:g.34507338T>A	NCBI36
NG_008127.1:g.63528T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1874T>A MANE Select	ENSP00000242317.4:p.Val625Glu
ENST00000242317.8:c.1874T>A	ENSP00000242317.4:p.Val625Glu
ENST00000442556.1:c.329+2601T>A
ENST00000470169.5:c.662T>A
ENST00000485580.1:n.450T>A
ENST00000614641.4:c.1886T>A	ENSP00000480538.1:p.Val629Glu
NM_001281428.1:c.1886T>A	NP_001268357.1:p.Val629Glu
NM_012144.3:c.1874T>A	NP_036276.1:p.Val625Glu
XM_006716758.2:c.1343T>A	XP_006716821.1:p.Val448Glu
XM_011517848.1:c.1628T>A	XP_011516150.1:p.Val543Glu
XM_006716758.3:c.1343T>A	XP_006716821.1:p.Val448Glu
XM_011517848.2:c.1628T>A	XP_011516150.1:p.Val543Glu
XM_017014625.2:c.1616T>A	XP_016870114.1:p.Val539Glu
XR_002956774.1:n.1977T>A
NM_012144.4:c.1874T>A MANE Select	NP_036276.1:p.Val625Glu
NM_001281428.2:c.1886T>A	NP_001268357.1:p.Val629Glu