Canonical Allele Identifier: CA373251057

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34497157G>T , CM000671.2:g.34497157G>T	GRCh38
NC_000009.11:g.34497155G>T , CM000671.1:g.34497155G>T	GRCh37
NC_000009.10:g.34487155G>T	NCBI36
NG_008127.1:g.43345G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.859G>T MANE Select	NP_036276.1:p.Glu287Ter
ENST00000242317.9:c.859G>T MANE Select	ENSP00000242317.4:p.Glu287Ter
NM_001281428.1:c.871G>T	NP_001268357.1:p.Glu291Ter
NM_001281428.2:c.871G>T	NP_001268357.1:p.Glu291Ter
NM_012144.3:c.859G>T	NP_036276.1:p.Glu287Ter
ENST00000242317.8:c.859G>T	ENSP00000242317.4:p.Glu287Ter
ENST00000437363.5:c.826G>T	ENSP00000395396.1:p.Glu276Ter
ENST00000614641.4:c.871G>T	ENSP00000480538.1:p.Glu291Ter
XM_006716758.2:c.328G>T	XP_006716821.1:p.Glu110Ter
XM_006716758.3:c.328G>T	XP_006716821.1:p.Glu110Ter
XM_011517846.1:c.871G>T	XP_011516148.1:p.Glu291Ter
XM_011517846.2:c.871G>T	XP_011516148.1:p.Glu291Ter
XM_011517847.1:c.871G>T	XP_011516149.1:p.Glu291Ter
XM_011517847.3:c.871G>T	XP_011516149.1:p.Glu291Ter
XM_011517848.1:c.871G>T	XP_011516150.1:p.Glu291Ter
XM_011517848.2:c.871G>T	XP_011516150.1:p.Glu291Ter
XM_011517849.1:c.871G>T	XP_011516151.1:p.Glu291Ter
XM_011517849.2:c.871G>T	XP_011516151.1:p.Glu291Ter
XM_011517850.1:c.871G>T	XP_011516152.1:p.Glu291Ter
XM_011517850.3:c.871G>T	XP_011516152.1:p.Glu291Ter
XM_017014625.2:c.859G>T	XP_016870114.1:p.Glu287Ter
XR_002956774.1:n.1072G>T
XR_929232.1:n.1125G>T
XR_929232.2:n.1072G>T
XR_929233.1:n.1125G>T
XR_929233.2:n.1072G>T
XR_929235.1:n.1125G>T