Canonical Allele Identifier: CA5034273

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34501164C>A , CM000671.2:g.34501164C>A	GRCh38
NC_000009.11:g.34501162C>A , CM000671.1:g.34501162C>A	GRCh37
NC_000009.10:g.34491162C>A	NCBI36
NG_008127.1:g.47352C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1046C>A MANE Select	NP_036276.1:p.Ala349Glu
ENST00000242317.9:c.1046C>A MANE Select	ENSP00000242317.4:p.Ala349Glu
NM_001281428.1:c.1058C>A	NP_001268357.1:p.Ala353Glu
NM_001281428.2:c.1058C>A	NP_001268357.1:p.Ala353Glu
NM_012144.3:c.1046C>A	NP_036276.1:p.Ala349Glu
ENST00000242317.8:c.1046C>A	ENSP00000242317.4:p.Ala349Glu
ENST00000614641.4:c.1058C>A	ENSP00000480538.1:p.Ala353Glu
XM_006716758.2:c.515C>A	XP_006716821.1:p.Ala172Glu
XM_006716758.3:c.515C>A	XP_006716821.1:p.Ala172Glu
XM_011517846.1:c.1058C>A	XP_011516148.1:p.Ala353Glu
XM_011517846.2:c.1058C>A	XP_011516148.1:p.Ala353Glu
XM_011517847.1:c.1058C>A	XP_011516149.1:p.Ala353Glu
XM_011517847.3:c.1058C>A	XP_011516149.1:p.Ala353Glu
XM_011517848.1:c.1058C>A	XP_011516150.1:p.Ala353Glu
XM_011517848.2:c.1058C>A	XP_011516150.1:p.Ala353Glu
XM_011517849.1:c.1058C>A	XP_011516151.1:p.Ala353Glu
XM_011517849.2:c.1058C>A	XP_011516151.1:p.Ala353Glu
XM_011517850.1:c.1058C>A	XP_011516152.1:p.Ala353Glu
XM_011517850.3:c.1058C>A	XP_011516152.1:p.Ala353Glu
XM_017014625.2:c.1046C>A	XP_016870114.1:p.Ala349Glu
XR_002956774.1:n.1259C>A
XR_929232.1:n.1312C>A
XR_929232.2:n.1259C>A
XR_929233.1:n.1312C>A
XR_929233.2:n.1259C>A
XR_929235.1:n.1312C>A