Canonical Allele Identifier: CA343783

Gene: ADAR

Linked Data

• ClinVar Variation Id: 39461
• ClinVar RCV Id: RCV000032657
• dbSNP Id: rs398122897
• ExAC: 1:154562286 A / G
• gnomAD v2: 1-154562286-A-G
• gnomAD v4: 1-154589810-A-G
• MyVariant Identifiers: chr1:g.154562286A>G (hg19) ; chr1:g.154589810A>G (hg38)
• PubMed: PMID:23001123

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589810A>G , CM000663.2:g.154589810A>G	GRCh38
NC_000001.10:g.154562286A>G , CM000663.1:g.154562286A>G	GRCh37
NC_000001.9:g.152828910A>G	NCBI36
NG_011844.1:g.43152T>C
NG_011844.2:g.46751T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2509T>C	ENSP00000497790.2:n.2509T>C
ENST00000649724.2:c.2645T>C	ENSP00000497932.2:p.Ile882Thr
ENST00000680270.2:c.2498T>C	ENSP00000505532.2:p.Ile833Thr
ENST00000681056.2:c.2267T>C	ENSP00000506234.2:p.Ile756Thr
ENST00000368471.8:c.1730T>C	ENSP00000357456.3:p.Ile577Thr
ENST00000368474.9:c.2615T>C MANE Select	ENSP00000357459.4:p.Ile872Thr
ENST00000529168.2:c.2537T>C	ENSP00000431794.2:p.Ile846Thr
ENST00000647682.2:n.2600T>C
ENST00000648231.2:c.1730T>C	ENSP00000497555.1:p.Ile577Thr
ENST00000648311.1:c.1730T>C	ENSP00000498137.1:p.Ile577Thr
ENST00000648714.2:c.*90T>C	ENSP00000497434.2:n.*90T>C
ENST00000649021.1:n.2651T>C
ENST00000649022.2:c.1730T>C	ENSP00000496896.2:p.Ile577Thr
ENST00000649042.1:c.1730T>C	ENSP00000497790.1:p.Ile577Thr
ENST00000649408.2:c.2615T>C	ENSP00000497386.2:p.Ile872Thr
ENST00000649724.1:c.1730T>C	ENSP00000497932.1:p.Ile577Thr
ENST00000649749.1:c.1730T>C	ENSP00000497210.1:p.Ile577Thr
ENST00000679375.1:c.*847T>C	ENSP00000505887.1:n.*847T>C
ENST00000679465.1:n.3068T>C
ENST00000679805.1:n.2651T>C
ENST00000679899.1:c.1673T>C	ENSP00000505996.1:p.Ile558Thr
ENST00000680270.1:c.1730T>C	ENSP00000505532.1:p.Ile577Thr
ENST00000680305.1:c.2615T>C	ENSP00000506312.1:p.Ile872Thr
ENST00000681056.1:c.1730T>C	ENSP00000506234.1:p.Ile577Thr
ENST00000681235.1:c.*2137T>C	ENSP00000506606.1:n.*2137T>C
ENST00000681429.1:n.1875T>C
ENST00000681683.1:c.1730T>C	ENSP00000506666.1:p.Ile577Thr
ENST00000681786.1:n.3068T>C
ENST00000681901.1:c.*2215T>C	ENSP00000504883.1:n.*2215T>C
ENST00000368471.7:c.1730T>C	ENSP00000357456.3:p.Ile577Thr
ENST00000368474.8:c.2615T>C	ENSP00000357459.4:p.Ile872Thr
ENST00000529168.1:c.2522T>C	ENSP00000431794.1:p.Ile841Thr
NM_001025107.2:c.1730T>C	NP_001020278.1:p.Ile577Thr
NM_001111.4:c.2615T>C	NP_001102.2:p.Ile872Thr
NM_001193495.1:c.1730T>C	NP_001180424.1:p.Ile577Thr
NM_015840.3:c.2537T>C	NP_056655.2:p.Ile846Thr
NM_015841.3:c.2480T>C	NP_056656.2:p.Ile827Thr
XM_006711109.1:c.2645T>C	XP_006711172.1:p.Ile882Thr
XM_006711111.2:c.1730T>C	XP_006711174.1:p.Ile577Thr
XM_006711112.1:c.1730T>C	XP_006711175.1:p.Ile577Thr
XM_006711113.1:c.1730T>C	XP_006711176.1:p.Ile577Thr
XM_011509060.1:c.2744T>C	XP_011507362.1:p.Ile915Thr
XM_011509061.1:c.2666T>C	XP_011507363.1:p.Ile889Thr
XM_011509062.1:c.2633T>C	XP_011507364.1:p.Ile878Thr
NM_001025107.3:c.1730T>C	NP_001020278.1:p.Ile577Thr
NM_001111.5:c.2615T>C MANE Select	NP_001102.3:p.Ile872Thr
NM_001193495.2:c.1730T>C	NP_001180424.1:p.Ile577Thr
NM_001365045.1:c.2642T>C	NP_001351974.1:p.Ile881Thr
NM_001365046.1:c.1730T>C	NP_001351975.1:p.Ile577Thr
NM_001365047.1:c.1730T>C	NP_001351976.1:p.Ile577Thr
NM_001365048.1:c.1730T>C	NP_001351977.1:p.Ile577Thr
NM_001365049.1:c.1652T>C	NP_001351978.1:p.Ile551Thr
NM_015840.4:c.2537T>C	NP_056655.3:p.Ile846Thr
NM_015841.4:c.2480T>C	NP_056656.3:p.Ile827Thr
XM_006711113.2:c.1730T>C	XP_006711176.1:p.Ile577Thr
XM_011509061.2:c.1652T>C	XP_011507363.2:p.Ile551Thr
XM_024449674.1:c.2744T>C	XP_024305442.1:p.Ile915Thr