Canonical Allele Identifier: CA5034596

Gene: DNAI1

Linked Data

• dbSNP Id: rs764710267
• ExAC: 9:34517470 A / G
• gnomAD v2: 9-34517470-A-G
• gnomAD v3: 9-34517472-A-G
• gnomAD v4: 9-34517472-A-G
• MyVariant Identifiers: chr9:g.34517470A>G (hg19) ; chr9:g.34517472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517472A>G , CM000671.2:g.34517472A>G	GRCh38
NC_000009.11:g.34517470A>G , CM000671.1:g.34517470A>G	GRCh37
NC_000009.10:g.34507470A>G	NCBI36
NG_008127.1:g.63660A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+5A>G MANE Select	ENSP00000242317.4:n.2001+5A>G
ENST00000242317.8:c.2001+5A>G	ENSP00000242317.4:n.2001+5A>G
ENST00000442556.1:c.329+2733A>G
ENST00000614641.4:c.2013+5A>G	ENSP00000480538.1:n.2013+5A>G
NM_001281428.1:c.2013+5A>G	NP_001268357.1:n.2013+5A>G
NM_012144.3:c.2001+5A>G	NP_036276.1:n.2001+5A>G
XM_006716758.2:c.1470+5A>G	XP_006716821.1:n.1470+5A>G
XM_011517848.1:c.1755+5A>G	XP_011516150.1:n.1755+5A>G
XM_006716758.3:c.1470+5A>G	XP_006716821.1:n.1470+5A>G
XM_011517848.2:c.1755+5A>G	XP_011516150.1:n.1755+5A>G
XM_017014625.2:c.1743+5A>G	XP_016870114.1:n.1743+5A>G
XR_002956774.1:n.2104+5A>G
NM_012144.4:c.2001+5A>G MANE Select	NP_036276.1:n.2001+5A>G
NM_001281428.2:c.2013+5A>G	NP_001268357.1:n.2013+5A>G