Canonical Allele Identifier: CA2783508339

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517280C>A , CM000671.2:g.34517280C>A	GRCh38
NC_000009.11:g.34517278C>A , CM000671.1:g.34517278C>A	GRCh37
NC_000009.10:g.34507278C>A	NCBI36
NG_008127.1:g.63468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-5C>A MANE Select	ENSP00000242317.4:n.1819-5C>A
ENST00000242317.8:c.1819-5C>A	ENSP00000242317.4:n.1819-5C>A
ENST00000442556.1:c.329+2541C>A
ENST00000470169.5:c.607-5C>A
ENST00000485580.1:n.395-5C>A
ENST00000614641.4:c.1831-5C>A	ENSP00000480538.1:n.1831-5C>A
NM_001281428.1:c.1831-5C>A	NP_001268357.1:n.1831-5C>A
NM_012144.3:c.1819-5C>A	NP_036276.1:n.1819-5C>A
XM_006716758.2:c.1288-5C>A	XP_006716821.1:n.1288-5C>A
XM_011517848.1:c.1573-5C>A	XP_011516150.1:n.1573-5C>A
XR_929233.1:n.2060C>A
XM_006716758.3:c.1288-5C>A	XP_006716821.1:n.1288-5C>A
XM_011517848.2:c.1573-5C>A	XP_011516150.1:n.1573-5C>A
XM_017014625.2:c.1561-5C>A	XP_016870114.1:n.1561-5C>A
XR_002956774.1:n.1922-5C>A
XR_929233.2:n.2007C>A
NM_012144.4:c.1819-5C>A MANE Select	NP_036276.1:n.1819-5C>A
NM_001281428.2:c.1831-5C>A	NP_001268357.1:n.1831-5C>A