Canonical Allele Identifier: CA342636817

Gene: ADAR

Linked Data

• ClinVar Variation Id: 1396756
• ClinVar RCV Id: RCV001887490
• dbSNP Id: rs1261780777
• gnomAD v3: 1-154589793-A-G
• gnomAD v4: 1-154589793-A-G
• MyVariant Identifiers: chr1:g.154562269A>G (hg19) ; chr1:g.154589793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589793A>G , CM000663.2:g.154589793A>G	GRCh38
NC_000001.10:g.154562269A>G , CM000663.1:g.154562269A>G	GRCh37
NC_000001.9:g.152828893A>G	NCBI36
NG_011844.1:g.43169T>C
NG_011844.2:g.46768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2526T>C	ENSP00000497790.2:n.2526T>C
ENST00000649724.2:c.2662T>C	ENSP00000497932.2:p.Ser888Pro
ENST00000680270.2:c.2515T>C	ENSP00000505532.2:p.Ser839Pro
ENST00000681056.2:c.2284T>C	ENSP00000506234.2:p.Ser762Pro
ENST00000368471.8:c.1747T>C	ENSP00000357456.3:p.Ser583Pro
ENST00000368474.9:c.2632T>C MANE Select	ENSP00000357459.4:p.Ser878Pro
ENST00000529168.2:c.2554T>C	ENSP00000431794.2:p.Ser852Pro
ENST00000647682.2:n.2617T>C
ENST00000648231.2:c.1747T>C	ENSP00000497555.1:p.Ser583Pro
ENST00000648311.1:c.1747T>C	ENSP00000498137.1:p.Ser583Pro
ENST00000648714.2:c.*107T>C	ENSP00000497434.2:n.*107T>C
ENST00000649021.1:n.2668T>C
ENST00000649022.2:c.1747T>C	ENSP00000496896.2:p.Ser583Pro
ENST00000649042.1:c.1747T>C	ENSP00000497790.1:p.Ser583Pro
ENST00000649408.2:c.2632T>C	ENSP00000497386.2:p.Ser878Pro
ENST00000649724.1:c.1747T>C	ENSP00000497932.1:p.Ser583Pro
ENST00000649749.1:c.1747T>C	ENSP00000497210.1:p.Ser583Pro
ENST00000679375.1:c.*864T>C	ENSP00000505887.1:n.*864T>C
ENST00000679465.1:n.3085T>C
ENST00000679805.1:n.2668T>C
ENST00000679899.1:c.1690T>C	ENSP00000505996.1:p.Ser564Pro
ENST00000680270.1:c.1747T>C	ENSP00000505532.1:p.Ser583Pro
ENST00000680305.1:c.2632T>C	ENSP00000506312.1:p.Ser878Pro
ENST00000681056.1:c.1747T>C	ENSP00000506234.1:p.Ser583Pro
ENST00000681235.1:c.*2154T>C	ENSP00000506606.1:n.*2154T>C
ENST00000681429.1:n.1892T>C
ENST00000681683.1:c.1747T>C	ENSP00000506666.1:p.Ser583Pro
ENST00000681786.1:n.3085T>C
ENST00000681901.1:c.*2232T>C	ENSP00000504883.1:n.*2232T>C
ENST00000368471.7:c.1747T>C	ENSP00000357456.3:p.Ser583Pro
ENST00000368474.8:c.2632T>C	ENSP00000357459.4:p.Ser878Pro
ENST00000529168.1:c.2539T>C	ENSP00000431794.1:p.Ser847Pro
NM_001025107.2:c.1747T>C	NP_001020278.1:p.Ser583Pro
NM_001111.4:c.2632T>C	NP_001102.2:p.Ser878Pro
NM_001193495.1:c.1747T>C	NP_001180424.1:p.Ser583Pro
NM_015840.3:c.2554T>C	NP_056655.2:p.Ser852Pro
NM_015841.3:c.2497T>C	NP_056656.2:p.Ser833Pro
XM_006711109.1:c.2662T>C	XP_006711172.1:p.Ser888Pro
XM_006711111.2:c.1747T>C	XP_006711174.1:p.Ser583Pro
XM_006711112.1:c.1747T>C	XP_006711175.1:p.Ser583Pro
XM_006711113.1:c.1747T>C	XP_006711176.1:p.Ser583Pro
XM_011509060.1:c.2761T>C	XP_011507362.1:p.Ser921Pro
XM_011509061.1:c.2683T>C	XP_011507363.1:p.Ser895Pro
XM_011509062.1:c.2650T>C	XP_011507364.1:p.Ser884Pro
NM_001025107.3:c.1747T>C	NP_001020278.1:p.Ser583Pro
NM_001111.5:c.2632T>C MANE Select	NP_001102.3:p.Ser878Pro
NM_001193495.2:c.1747T>C	NP_001180424.1:p.Ser583Pro
NM_001365045.1:c.2659T>C	NP_001351974.1:p.Ser887Pro
NM_001365046.1:c.1747T>C	NP_001351975.1:p.Ser583Pro
NM_001365047.1:c.1747T>C	NP_001351976.1:p.Ser583Pro
NM_001365048.1:c.1747T>C	NP_001351977.1:p.Ser583Pro
NM_001365049.1:c.1669T>C	NP_001351978.1:p.Ser557Pro
NM_015840.4:c.2554T>C	NP_056655.3:p.Ser852Pro
NM_015841.4:c.2497T>C	NP_056656.3:p.Ser833Pro
XM_006711113.2:c.1747T>C	XP_006711176.1:p.Ser583Pro
XM_011509061.2:c.1669T>C	XP_011507363.2:p.Ser557Pro
XM_024449674.1:c.2761T>C	XP_024305442.1:p.Ser921Pro