Canonical Allele Identifier: CA5034441

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513173G>A , CM000671.2:g.34513173G>A	GRCh38
NC_000009.11:g.34513171G>A , CM000671.1:g.34513171G>A	GRCh37
NC_000009.10:g.34503171G>A	NCBI36
NG_008127.1:g.59361G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1551G>A MANE Select	NP_036276.1:p.Glu517=
ENST00000242317.9:c.1551G>A MANE Select	ENSP00000242317.4:p.Glu517=
NM_001281428.1:c.1563G>A	NP_001268357.1:p.Glu521=
NM_001281428.2:c.1563G>A	NP_001268357.1:p.Glu521=
NM_012144.3:c.1551G>A	NP_036276.1:p.Glu517=
ENST00000242317.8:c.1551G>A	ENSP00000242317.4:p.Glu517=
ENST00000442556.1:c.62G>A
ENST00000470169.5:c.488G>A
ENST00000485580.1:n.30G>A
ENST00000614641.4:c.1563G>A	ENSP00000480538.1:p.Glu521=
XM_006716758.2:c.1020G>A	XP_006716821.1:p.Glu340=
XM_006716758.3:c.1020G>A	XP_006716821.1:p.Glu340=
XM_011517846.1:c.1563G>A	XP_011516148.1:p.Glu521=
XM_011517846.2:c.1563G>A	XP_011516148.1:p.Glu521=
XM_011517847.1:c.1563G>A	XP_011516149.1:p.Glu521=
XM_011517847.3:c.1563G>A	XP_011516149.1:p.Glu521=
XM_011517848.1:c.1324-1221G>A	XP_011516150.1:n.1324-1221G>A
XM_011517848.2:c.1324-1221G>A	XP_011516150.1:n.1324-1221G>A
XM_011517849.1:c.1563G>A	XP_011516151.1:p.Glu521=
XM_011517849.2:c.1563G>A	XP_011516151.1:p.Glu521=
XM_017014625.2:c.1312-1221G>A	XP_016870114.1:n.1312-1221G>A
XR_002956774.1:n.1764G>A
XR_929232.1:n.1817G>A
XR_929232.2:n.1764G>A
XR_929233.1:n.1817G>A
XR_929233.2:n.1764G>A
XR_929235.1:n.1578-1331G>A