Canonical Allele Identifier: CA1845591545

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517302A= , CM000671.2:g.34517302A=	GRCh38
NC_000009.11:g.34517300A= , CM000671.1:g.34517300A=	GRCh37
NC_000009.10:g.34507300A=	NCBI36
NG_008127.1:g.63490A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1836A= MANE Select	ENSP00000242317.4:p.Leu612=
ENST00000242317.8:c.1836A=	ENSP00000242317.4:p.Leu612=
ENST00000442556.1:c.329+2563A=
ENST00000470169.5:c.624A=
ENST00000485580.1:n.412A=
ENST00000614641.4:c.1848A=	ENSP00000480538.1:p.Leu616=
NM_001281428.1:c.1848A=	NP_001268357.1:p.Leu616=
NM_012144.3:c.1836A=	NP_036276.1:p.Leu612=
XM_006716758.2:c.1305A=	XP_006716821.1:p.Leu435=
XM_011517848.1:c.1590A=	XP_011516150.1:p.Leu530=
XM_006716758.3:c.1305A=	XP_006716821.1:p.Leu435=
XM_011517848.2:c.1590A=	XP_011516150.1:p.Leu530=
XM_017014625.2:c.1578A=	XP_016870114.1:p.Leu526=
XR_002956774.1:n.1939A=
NM_012144.4:c.1836A= MANE Select	NP_036276.1:p.Leu612=
NM_001281428.2:c.1848A=	NP_001268357.1:p.Leu616=