Canonical Allele Identifier: CA373266580

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517340G>A (hg19) ; chr9:g.34517342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517342G>A , CM000671.2:g.34517342G>A	GRCh38
NC_000009.11:g.34517340G>A , CM000671.1:g.34517340G>A	GRCh37
NC_000009.10:g.34507340G>A	NCBI36
NG_008127.1:g.63530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1876G>A MANE Select	ENSP00000242317.4:p.Ala626Thr
ENST00000242317.8:c.1876G>A	ENSP00000242317.4:p.Ala626Thr
ENST00000442556.1:c.329+2603G>A
ENST00000470169.5:c.664G>A
ENST00000485580.1:n.452G>A
ENST00000614641.4:c.1888G>A	ENSP00000480538.1:p.Ala630Thr
NM_001281428.1:c.1888G>A	NP_001268357.1:p.Ala630Thr
NM_012144.3:c.1876G>A	NP_036276.1:p.Ala626Thr
XM_006716758.2:c.1345G>A	XP_006716821.1:p.Ala449Thr
XM_011517848.1:c.1630G>A	XP_011516150.1:p.Ala544Thr
XM_006716758.3:c.1345G>A	XP_006716821.1:p.Ala449Thr
XM_011517848.2:c.1630G>A	XP_011516150.1:p.Ala544Thr
XM_017014625.2:c.1618G>A	XP_016870114.1:p.Ala540Thr
XR_002956774.1:n.1979G>A
NM_012144.4:c.1876G>A MANE Select	NP_036276.1:p.Ala626Thr
NM_001281428.2:c.1888G>A	NP_001268357.1:p.Ala630Thr