Canonical Allele Identifier: CA5034406

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34512389C>T , CM000671.2:g.34512389C>T	GRCh38
NC_000009.11:g.34512387C>T , CM000671.1:g.34512387C>T	GRCh37
NC_000009.10:g.34502387C>T	NCBI36
NG_008127.1:g.58577C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1454C>T MANE Select	NP_036276.1:p.Thr485Met
ENST00000242317.9:c.1454C>T MANE Select	ENSP00000242317.4:p.Thr485Met
NM_001281428.1:c.1466C>T	NP_001268357.1:p.Thr489Met
NM_001281428.2:c.1466C>T	NP_001268357.1:p.Thr489Met
NM_012144.3:c.1454C>T	NP_036276.1:p.Thr485Met
ENST00000242317.8:c.1454C>T	ENSP00000242317.4:p.Thr485Met
ENST00000470169.5:c.391C>T
ENST00000614641.4:c.1466C>T	ENSP00000480538.1:p.Thr489Met
XM_006716758.2:c.923C>T	XP_006716821.1:p.Thr308Met
XM_006716758.3:c.923C>T	XP_006716821.1:p.Thr308Met
XM_011517846.1:c.1466C>T	XP_011516148.1:p.Thr489Met
XM_011517846.2:c.1466C>T	XP_011516148.1:p.Thr489Met
XM_011517847.1:c.1466C>T	XP_011516149.1:p.Thr489Met
XM_011517847.3:c.1466C>T	XP_011516149.1:p.Thr489Met
XM_011517848.1:c.1324-2005C>T	XP_011516150.1:n.1324-2005C>T
XM_011517848.2:c.1324-2005C>T	XP_011516150.1:n.1324-2005C>T
XM_011517849.1:c.1466C>T	XP_011516151.1:p.Thr489Met
XM_011517849.2:c.1466C>T	XP_011516151.1:p.Thr489Met
XM_017014625.2:c.1312-2005C>T	XP_016870114.1:n.1312-2005C>T
XR_002956774.1:n.1667C>T
XR_929232.1:n.1720C>T
XR_929232.2:n.1667C>T
XR_929233.1:n.1720C>T
XR_929233.2:n.1667C>T
XR_929235.1:n.1578-2115C>T