Canonical Allele Identifier: CA1845610390

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514438C= , CM000671.2:g.34514438C=	GRCh38
NC_000009.11:g.34514436C= , CM000671.1:g.34514436C=	GRCh37
NC_000009.10:g.34504436C=	NCBI36
NG_008127.1:g.60626C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1614C= MANE Select	ENSP00000242317.4:p.Ala538=
ENST00000242317.8:c.1614C=	ENSP00000242317.4:p.Ala538=
ENST00000442556.1:c.125C=
ENST00000470169.5:c.507-202C=
ENST00000485580.1:n.93C=
ENST00000614641.4:c.1626C=	ENSP00000480538.1:p.Ala542=
NM_001281428.1:c.1626C=	NP_001268357.1:p.Ala542=
NM_012144.3:c.1614C=	NP_036276.1:p.Ala538=
XM_006716758.2:c.1083C=	XP_006716821.1:p.Ala361=
XM_011517846.1:c.1626C=	XP_011516148.1:p.Ala542=
XM_011517847.1:c.1626C=	XP_011516149.1:p.Ala542=
XM_011517848.1:c.1368C=	XP_011516150.1:p.Ala456=
XM_011517849.1:c.1582-66C=	XP_011516151.1:n.1582-66C=
XR_929232.1:n.1836-66C=
XR_929233.1:n.1836-66C=
XR_929235.1:n.1578-66C=
XM_006716758.3:c.1083C=	XP_006716821.1:p.Ala361=
XM_011517846.2:c.1626C=	XP_011516148.1:p.Ala542=
XM_011517847.3:c.1626C=	XP_011516149.1:p.Ala542=
XM_011517848.2:c.1368C=	XP_011516150.1:p.Ala456=
XM_011517849.2:c.1582-66C=	XP_011516151.1:n.1582-66C=
XM_017014625.2:c.1356C=	XP_016870114.1:p.Ala452=
XR_002956774.1:n.1783-66C=
XR_929232.2:n.1783-66C=
XR_929233.2:n.1783-66C=
NM_012144.4:c.1614C= MANE Select	NP_036276.1:p.Ala538=
NM_001281428.2:c.1626C=	NP_001268357.1:p.Ala542=