Canonical Allele Identifier: CA373248908

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34493195G>A , CM000671.2:g.34493195G>A	GRCh38
NC_000009.11:g.34493193G>A , CM000671.1:g.34493193G>A	GRCh37
NC_000009.10:g.34483193G>A	NCBI36
NG_008127.1:g.39383G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.683G>A MANE Select	NP_036276.1:p.Trp228Ter
ENST00000242317.9:c.683G>A MANE Select	ENSP00000242317.4:p.Trp228Ter
NM_001281428.1:c.695G>A	NP_001268357.1:p.Trp232Ter
NM_001281428.2:c.695G>A	NP_001268357.1:p.Trp232Ter
NM_012144.3:c.683G>A	NP_036276.1:p.Trp228Ter
ENST00000242317.8:c.683G>A	ENSP00000242317.4:p.Trp228Ter
ENST00000437363.5:c.650G>A	ENSP00000395396.1:p.Trp217Ter
ENST00000488369.1:n.799G>A
ENST00000488790.1:n.214G>A
ENST00000614641.4:c.695G>A	ENSP00000480538.1:p.Trp232Ter
XM_006716758.2:c.152G>A	XP_006716821.1:p.Trp51Ter
XM_006716758.3:c.152G>A	XP_006716821.1:p.Trp51Ter
XM_011517846.1:c.695G>A	XP_011516148.1:p.Trp232Ter
XM_011517846.2:c.695G>A	XP_011516148.1:p.Trp232Ter
XM_011517847.1:c.695G>A	XP_011516149.1:p.Trp232Ter
XM_011517847.3:c.695G>A	XP_011516149.1:p.Trp232Ter
XM_011517848.1:c.695G>A	XP_011516150.1:p.Trp232Ter
XM_011517848.2:c.695G>A	XP_011516150.1:p.Trp232Ter
XM_011517849.1:c.695G>A	XP_011516151.1:p.Trp232Ter
XM_011517849.2:c.695G>A	XP_011516151.1:p.Trp232Ter
XM_011517850.1:c.695G>A	XP_011516152.1:p.Trp232Ter
XM_011517850.3:c.695G>A	XP_011516152.1:p.Trp232Ter
XM_017014625.2:c.683G>A	XP_016870114.1:p.Trp228Ter
XR_002956774.1:n.896G>A
XR_929232.1:n.949G>A
XR_929232.2:n.896G>A
XR_929233.1:n.949G>A
XR_929233.2:n.896G>A
XR_929235.1:n.949G>A