Canonical Allele Identifier: CA30848578

Gene: ADAR

Linked Data

• ClinVar Variation Id: 540261
• ClinVar RCV Id: RCV000650236
• dbSNP Id: rs986264460
• MyVariant Identifiers: chr1:g.154557379G>C (hg19) ; chr1:g.154584903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154584903G>C , CM000663.2:g.154584903G>C	GRCh38
NC_000001.10:g.154557379G>C , CM000663.1:g.154557379G>C	GRCh37
NC_000001.9:g.152824003G>C	NCBI36
NG_011844.1:g.48059C>G
NG_011844.2:g.51658C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.3478C>G	ENSP00000497790.2:n.3478C>G
ENST00000649724.2:c.3614C>G	ENSP00000497932.2:p.Ala1205Gly
ENST00000680270.2:c.3467C>G	ENSP00000505532.2:p.Ala1156Gly
ENST00000681056.2:c.3236C>G	ENSP00000506234.2:p.Ala1079Gly
ENST00000368471.8:c.2699C>G	ENSP00000357456.3:p.Ala900Gly
ENST00000368474.9:c.3584C>G MANE Select	ENSP00000357459.4:p.Ala1195Gly
ENST00000492630.2:n.2377C>G
ENST00000529168.2:c.3506C>G	ENSP00000431794.2:p.Ala1169Gly
ENST00000647682.2:n.3569C>G
ENST00000648231.2:c.2699C>G	ENSP00000497555.1:p.Ala900Gly
ENST00000648311.1:c.2699C>G	ENSP00000498137.1:p.Ala900Gly
ENST00000648714.2:c.*1059C>G	ENSP00000497434.2:n.*1059C>G
ENST00000649021.1:n.4320C>G
ENST00000649022.2:c.2699C>G	ENSP00000496896.2:p.Ala900Gly
ENST00000649042.1:c.2699C>G	ENSP00000497790.1:p.Ala900Gly
ENST00000649408.2:c.*750C>G	ENSP00000497386.2:n.*750C>G
ENST00000649724.1:c.2699C>G	ENSP00000497932.1:p.Ala900Gly
ENST00000649749.1:c.2699C>G	ENSP00000497210.1:p.Ala900Gly
ENST00000679375.1:c.*1816C>G	ENSP00000505887.1:n.*1816C>G
ENST00000679465.1:n.4445C>G
ENST00000679805.1:n.4320C>G
ENST00000679899.1:c.2642C>G	ENSP00000505996.1:p.Ala881Gly
ENST00000680270.1:c.2699C>G	ENSP00000505532.1:p.Ala900Gly
ENST00000680305.1:c.3401C>G	ENSP00000506312.1:p.Ala1134Gly
ENST00000681056.1:c.2699C>G	ENSP00000506234.1:p.Ala900Gly
ENST00000681235.1:c.*3106C>G	ENSP00000506606.1:n.*3106C>G
ENST00000681429.1:n.3252C>G
ENST00000681683.1:c.2699C>G	ENSP00000506666.1:p.Ala900Gly
ENST00000681786.1:n.4445C>G
ENST00000681901.1:c.*3184C>G	ENSP00000504883.1:n.*3184C>G
ENST00000368471.7:c.2699C>G	ENSP00000357456.3:p.Ala900Gly
ENST00000368474.8:c.3584C>G	ENSP00000357459.4:p.Ala1195Gly
ENST00000492630.1:n.343C>G
ENST00000529168.1:c.3491C>G	ENSP00000431794.1:p.Ala1164Gly
NM_001025107.2:c.2699C>G	NP_001020278.1:p.Ala900Gly
NM_001111.4:c.3584C>G	NP_001102.2:p.Ala1195Gly
NM_001193495.1:c.2699C>G	NP_001180424.1:p.Ala900Gly
NM_015840.3:c.3506C>G	NP_056655.2:p.Ala1169Gly
NM_015841.3:c.3449C>G	NP_056656.2:p.Ala1150Gly
XM_006711109.1:c.3614C>G	XP_006711172.1:p.Ala1205Gly
XM_006711111.2:c.2699C>G	XP_006711174.1:p.Ala900Gly
XM_006711112.1:c.2699C>G	XP_006711175.1:p.Ala900Gly
XM_006711113.1:c.2699C>G	XP_006711176.1:p.Ala900Gly
XM_011509060.1:c.3713C>G	XP_011507362.1:p.Ala1238Gly
XM_011509061.1:c.3635C>G	XP_011507363.1:p.Ala1212Gly
XM_011509062.1:c.3602C>G	XP_011507364.1:p.Ala1201Gly
NM_001025107.3:c.2699C>G	NP_001020278.1:p.Ala900Gly
NM_001111.5:c.3584C>G MANE Select	NP_001102.3:p.Ala1195Gly
NM_001193495.2:c.2699C>G	NP_001180424.1:p.Ala900Gly
NM_001365045.1:c.3611C>G	NP_001351974.1:p.Ala1204Gly
NM_001365046.1:c.2699C>G	NP_001351975.1:p.Ala900Gly
NM_001365047.1:c.2699C>G	NP_001351976.1:p.Ala900Gly
NM_001365048.1:c.2699C>G	NP_001351977.1:p.Ala900Gly
NM_001365049.1:c.2621C>G	NP_001351978.1:p.Ala874Gly
NM_015840.4:c.3506C>G	NP_056655.3:p.Ala1169Gly
NM_015841.4:c.3449C>G	NP_056656.3:p.Ala1150Gly
XM_006711113.2:c.2699C>G	XP_006711176.1:p.Ala900Gly
XM_011509061.2:c.2621C>G	XP_011507363.2:p.Ala874Gly
XM_024449674.1:c.3713C>G	XP_024305442.1:p.Ala1238Gly