Canonical Allele Identifier: CA1845599329

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506827T= , CM000671.2:g.34506827T=	GRCh38
NC_000009.11:g.34506825T= , CM000671.1:g.34506825T=	GRCh37
NC_000009.10:g.34496825T=	NCBI36
NG_008127.1:g.53015T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1264T= MANE Select	ENSP00000242317.4:p.Phe422=
ENST00000242317.8:c.1264T=	ENSP00000242317.4:p.Phe422=
ENST00000470169.5:c.201T=
ENST00000614641.4:c.1276T=	ENSP00000480538.1:p.Phe426=
NM_001281428.1:c.1276T=	NP_001268357.1:p.Phe426=
NM_012144.3:c.1264T=	NP_036276.1:p.Phe422=
XM_006716758.2:c.733T=	XP_006716821.1:p.Phe245=
XM_011517846.1:c.1276T=	XP_011516148.1:p.Phe426=
XM_011517847.1:c.1276T=	XP_011516149.1:p.Phe426=
XM_011517848.1:c.1276T=	XP_011516150.1:p.Phe426=
XM_011517849.1:c.1276T=	XP_011516151.1:p.Phe426=
XM_011517850.1:c.1276T=	XP_011516152.1:p.Phe426=
XR_929232.1:n.1530T=
XR_929233.1:n.1530T=
XR_929235.1:n.1530T=
XM_006716758.3:c.733T=	XP_006716821.1:p.Phe245=
XM_011517846.2:c.1276T=	XP_011516148.1:p.Phe426=
XM_011517847.3:c.1276T=	XP_011516149.1:p.Phe426=
XM_011517848.2:c.1276T=	XP_011516150.1:p.Phe426=
XM_011517849.2:c.1276T=	XP_011516151.1:p.Phe426=
XM_011517850.3:c.1276T=	XP_011516152.1:p.Phe426=
XM_017014625.2:c.1264T=	XP_016870114.1:p.Phe422=
XR_002956774.1:n.1477T=
XR_929232.2:n.1477T=
XR_929233.2:n.1477T=
NM_012144.4:c.1264T= MANE Select	NP_036276.1:p.Phe422=
NM_001281428.2:c.1276T=	NP_001268357.1:p.Phe426=