Canonical Allele Identifier: CA2689798748

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517612-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517612C>A , CM000671.2:g.34517612C>A	GRCh38
NC_000009.11:g.34517610C>A , CM000671.1:g.34517610C>A	GRCh37
NC_000009.10:g.34507610C>A	NCBI36
NG_008127.1:g.63800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.2001+145C>A MANE Select	ENSP00000242317.4:n.2001+145C>A
ENST00000242317.8:c.2001+145C>A	ENSP00000242317.4:n.2001+145C>A
ENST00000442556.1:c.329+2873C>A
ENST00000614641.4:c.2013+145C>A	ENSP00000480538.1:n.2013+145C>A
NM_001281428.1:c.2013+145C>A	NP_001268357.1:n.2013+145C>A
NM_012144.3:c.2001+145C>A	NP_036276.1:n.2001+145C>A
XM_006716758.2:c.1470+145C>A	XP_006716821.1:n.1470+145C>A
XM_011517848.1:c.1755+145C>A	XP_011516150.1:n.1755+145C>A
XM_006716758.3:c.1470+145C>A	XP_006716821.1:n.1470+145C>A
XM_011517848.2:c.1755+145C>A	XP_011516150.1:n.1755+145C>A
XM_017014625.2:c.1743+145C>A	XP_016870114.1:n.1743+145C>A
XR_002956774.1:n.2104+145C>A
NM_012144.4:c.2001+145C>A MANE Select	NP_036276.1:n.2001+145C>A
NM_001281428.2:c.2013+145C>A	NP_001268357.1:n.2013+145C>A