Canonical Allele Identifier: CA5034138

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34491531A>G , CM000671.2:g.34491531A>G	GRCh38
NC_000009.11:g.34491529A>G , CM000671.1:g.34491529A>G	GRCh37
NC_000009.10:g.34481529A>G	NCBI36
NG_008127.1:g.37719A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.658A>G MANE Select	NP_036276.1:p.Asn220Asp
ENST00000242317.9:c.658A>G MANE Select	ENSP00000242317.4:p.Asn220Asp
NM_001281428.1:c.670A>G	NP_001268357.1:p.Asn224Asp
NM_001281428.2:c.670A>G	NP_001268357.1:p.Asn224Asp
NM_012144.3:c.658A>G	NP_036276.1:p.Asn220Asp
ENST00000242317.8:c.658A>G	ENSP00000242317.4:p.Asn220Asp
ENST00000437363.5:c.625A>G	ENSP00000395396.1:p.Asn209Asp
ENST00000488369.1:n.774A>G
ENST00000488790.1:n.189A>G
ENST00000614641.4:c.670A>G	ENSP00000480538.1:p.Asn224Asp
XM_006716758.2:c.127A>G	XP_006716821.1:p.Asn43Asp
XM_006716758.3:c.127A>G	XP_006716821.1:p.Asn43Asp
XM_011517846.1:c.670A>G	XP_011516148.1:p.Asn224Asp
XM_011517846.2:c.670A>G	XP_011516148.1:p.Asn224Asp
XM_011517847.1:c.670A>G	XP_011516149.1:p.Asn224Asp
XM_011517847.3:c.670A>G	XP_011516149.1:p.Asn224Asp
XM_011517848.1:c.670A>G	XP_011516150.1:p.Asn224Asp
XM_011517848.2:c.670A>G	XP_011516150.1:p.Asn224Asp
XM_011517849.1:c.670A>G	XP_011516151.1:p.Asn224Asp
XM_011517849.2:c.670A>G	XP_011516151.1:p.Asn224Asp
XM_011517850.1:c.670A>G	XP_011516152.1:p.Asn224Asp
XM_011517850.3:c.670A>G	XP_011516152.1:p.Asn224Asp
XM_017014625.2:c.658A>G	XP_016870114.1:p.Asn220Asp
XR_002956774.1:n.871A>G
XR_929232.1:n.924A>G
XR_929232.2:n.871A>G
XR_929233.1:n.924A>G
XR_929233.2:n.871A>G
XR_929235.1:n.924A>G