Canonical Allele Identifier: CA373263715

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514501C>A , CM000671.2:g.34514501C>A	GRCh38
NC_000009.11:g.34514499C>A , CM000671.1:g.34514499C>A	GRCh37
NC_000009.10:g.34504499C>A	NCBI36
NG_008127.1:g.60689C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1677C>A MANE Select	NP_036276.1:p.Cys559Ter
ENST00000242317.9:c.1677C>A MANE Select	ENSP00000242317.4:p.Cys559Ter
NM_001281428.1:c.1689C>A	NP_001268357.1:p.Cys563Ter
NM_001281428.2:c.1689C>A	NP_001268357.1:p.Cys563Ter
NM_012144.3:c.1677C>A	NP_036276.1:p.Cys559Ter
ENST00000242317.8:c.1677C>A	ENSP00000242317.4:p.Cys559Ter
ENST00000442556.1:c.188C>A
ENST00000470169.5:c.507-139C>A
ENST00000485580.1:n.156C>A
ENST00000614641.4:c.1689C>A	ENSP00000480538.1:p.Cys563Ter
XM_006716758.2:c.1146C>A	XP_006716821.1:p.Cys382Ter
XM_006716758.3:c.1146C>A	XP_006716821.1:p.Cys382Ter
XM_011517846.1:c.1689C>A	XP_011516148.1:p.Cys563Ter
XM_011517846.2:c.1689C>A	XP_011516148.1:p.Cys563Ter
XM_011517847.1:c.1689C>A	XP_011516149.1:p.Cys563Ter
XM_011517847.3:c.1689C>A	XP_011516149.1:p.Cys563Ter
XM_011517848.1:c.1431C>A	XP_011516150.1:p.Cys477Ter
XM_011517848.2:c.1431C>A	XP_011516150.1:p.Cys477Ter
XM_011517849.1:c.1582-3C>A	XP_011516151.1:n.1582-3C>A
XM_011517849.2:c.1582-3C>A	XP_011516151.1:n.1582-3C>A
XM_017014625.2:c.1419C>A	XP_016870114.1:p.Cys473Ter
XR_002956774.1:n.1783-3C>A
XR_929232.1:n.1836-3C>A
XR_929232.2:n.1783-3C>A
XR_929233.1:n.1836-3C>A
XR_929233.2:n.1783-3C>A
XR_929235.1:n.1578-3C>A