Canonical Allele Identifier: CA5034102

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34490418A>G , CM000671.2:g.34490418A>G	GRCh38
NC_000009.11:g.34490416A>G , CM000671.1:g.34490416A>G	GRCh37
NC_000009.10:g.34480416A>G	NCBI36
NG_008127.1:g.36606A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.551A>G MANE Select	NP_036276.1:p.Lys184Arg
ENST00000242317.9:c.551A>G MANE Select	ENSP00000242317.4:p.Lys184Arg
NM_001281428.1:c.563A>G	NP_001268357.1:p.Lys188Arg
NM_001281428.2:c.563A>G	NP_001268357.1:p.Lys188Arg
NM_012144.3:c.551A>G	NP_036276.1:p.Lys184Arg
ENST00000242317.8:c.551A>G	ENSP00000242317.4:p.Lys184Arg
ENST00000437363.5:c.518A>G	ENSP00000395396.1:p.Lys173Arg
ENST00000488369.1:n.667A>G
ENST00000614641.4:c.563A>G	ENSP00000480538.1:p.Lys188Arg
XM_006716758.2:c.20A>G	XP_006716821.1:p.Lys7Arg
XM_006716758.3:c.20A>G	XP_006716821.1:p.Lys7Arg
XM_011517846.1:c.563A>G	XP_011516148.1:p.Lys188Arg
XM_011517846.2:c.563A>G	XP_011516148.1:p.Lys188Arg
XM_011517847.1:c.563A>G	XP_011516149.1:p.Lys188Arg
XM_011517847.3:c.563A>G	XP_011516149.1:p.Lys188Arg
XM_011517848.1:c.563A>G	XP_011516150.1:p.Lys188Arg
XM_011517848.2:c.563A>G	XP_011516150.1:p.Lys188Arg
XM_011517849.1:c.563A>G	XP_011516151.1:p.Lys188Arg
XM_011517849.2:c.563A>G	XP_011516151.1:p.Lys188Arg
XM_011517850.1:c.563A>G	XP_011516152.1:p.Lys188Arg
XM_011517850.3:c.563A>G	XP_011516152.1:p.Lys188Arg
XM_017014625.2:c.551A>G	XP_016870114.1:p.Lys184Arg
XR_002956774.1:n.764A>G
XR_929232.1:n.817A>G
XR_929232.2:n.764A>G
XR_929233.1:n.817A>G
XR_929233.2:n.764A>G
XR_929235.1:n.817A>G