Canonical Allele Identifier: CA342634421

Gene: ADAR

Linked Data

• ClinVar Variation Id: 1930938
• ClinVar RCV Id: RCV002631314
• dbSNP Id: rs751778442
• gnomAD v2: 1-154557290-G-C
• gnomAD v4: 1-154584814-G-C
• MyVariant Identifiers: chr1:g.154557290G>C (hg19) ; chr1:g.154584814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154584814G>C , CM000663.2:g.154584814G>C	GRCh38
NC_000001.10:g.154557290G>C , CM000663.1:g.154557290G>C	GRCh37
NC_000001.9:g.152823914G>C	NCBI36
NG_011844.1:g.48148C>G
NG_011844.2:g.51747C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.3567C>G	ENSP00000497790.2:n.3567C>G
ENST00000649724.2:c.3703C>G	ENSP00000497932.2:p.Pro1235Ala
ENST00000680270.2:c.3556C>G	ENSP00000505532.2:p.Pro1186Ala
ENST00000681056.2:c.3325C>G	ENSP00000506234.2:p.Pro1109Ala
ENST00000368471.8:c.2788C>G	ENSP00000357456.3:p.Pro930Ala
ENST00000368474.9:c.3673C>G MANE Select	ENSP00000357459.4:p.Pro1225Ala
ENST00000492630.2:n.2466C>G
ENST00000529168.2:c.3595C>G	ENSP00000431794.2:p.Pro1199Ala
ENST00000647682.2:n.3658C>G
ENST00000648231.2:c.2788C>G	ENSP00000497555.1:p.Pro930Ala
ENST00000648311.1:c.2788C>G	ENSP00000498137.1:p.Pro930Ala
ENST00000648714.2:c.*1148C>G	ENSP00000497434.2:n.*1148C>G
ENST00000649021.1:n.4409C>G
ENST00000649022.2:c.2788C>G	ENSP00000496896.2:p.Pro930Ala
ENST00000649042.1:c.2788C>G	ENSP00000497790.1:p.Pro930Ala
ENST00000649408.2:c.*839C>G	ENSP00000497386.2:n.*839C>G
ENST00000649724.1:c.2788C>G	ENSP00000497932.1:p.Pro930Ala
ENST00000649749.1:c.2788C>G	ENSP00000497210.1:p.Pro930Ala
ENST00000679375.1:c.*1905C>G	ENSP00000505887.1:n.*1905C>G
ENST00000679465.1:n.4534C>G
ENST00000679805.1:n.4409C>G
ENST00000679899.1:c.2731C>G	ENSP00000505996.1:p.Pro911Ala
ENST00000680270.1:c.2788C>G	ENSP00000505532.1:p.Pro930Ala
ENST00000680305.1:c.3490C>G	ENSP00000506312.1:p.Pro1164Ala
ENST00000681056.1:c.2788C>G	ENSP00000506234.1:p.Pro930Ala
ENST00000681235.1:c.*3195C>G	ENSP00000506606.1:n.*3195C>G
ENST00000681429.1:n.3341C>G
ENST00000681683.1:c.2788C>G	ENSP00000506666.1:p.Pro930Ala
ENST00000681786.1:n.4534C>G
ENST00000681901.1:c.*3273C>G	ENSP00000504883.1:n.*3273C>G
ENST00000368471.7:c.2788C>G	ENSP00000357456.3:p.Pro930Ala
ENST00000368474.8:c.3673C>G	ENSP00000357459.4:p.Pro1225Ala
ENST00000492630.1:n.432C>G
ENST00000529168.1:c.3580C>G	ENSP00000431794.1:p.Pro1194Ala
NM_001025107.2:c.2788C>G	NP_001020278.1:p.Pro930Ala
NM_001111.4:c.3673C>G	NP_001102.2:p.Pro1225Ala
NM_001193495.1:c.2788C>G	NP_001180424.1:p.Pro930Ala
NM_015840.3:c.3595C>G	NP_056655.2:p.Pro1199Ala
NM_015841.3:c.3538C>G	NP_056656.2:p.Pro1180Ala
XM_006711109.1:c.3703C>G	XP_006711172.1:p.Pro1235Ala
XM_006711111.2:c.2788C>G	XP_006711174.1:p.Pro930Ala
XM_006711112.1:c.2788C>G	XP_006711175.1:p.Pro930Ala
XM_006711113.1:c.2788C>G	XP_006711176.1:p.Pro930Ala
XM_011509060.1:c.3802C>G	XP_011507362.1:p.Pro1268Ala
XM_011509061.1:c.3724C>G	XP_011507363.1:p.Pro1242Ala
XM_011509062.1:c.3691C>G	XP_011507364.1:p.Pro1231Ala
NM_001025107.3:c.2788C>G	NP_001020278.1:p.Pro930Ala
NM_001111.5:c.3673C>G MANE Select	NP_001102.3:p.Pro1225Ala
NM_001193495.2:c.2788C>G	NP_001180424.1:p.Pro930Ala
NM_001365045.1:c.3700C>G	NP_001351974.1:p.Pro1234Ala
NM_001365046.1:c.2788C>G	NP_001351975.1:p.Pro930Ala
NM_001365047.1:c.2788C>G	NP_001351976.1:p.Pro930Ala
NM_001365048.1:c.2788C>G	NP_001351977.1:p.Pro930Ala
NM_001365049.1:c.2710C>G	NP_001351978.1:p.Pro904Ala
NM_015840.4:c.3595C>G	NP_056655.3:p.Pro1199Ala
NM_015841.4:c.3538C>G	NP_056656.3:p.Pro1180Ala
XM_006711113.2:c.2788C>G	XP_006711176.1:p.Pro930Ala
XM_011509061.2:c.2710C>G	XP_011507363.2:p.Pro904Ala
XM_024449674.1:c.3802C>G	XP_024305442.1:p.Pro1268Ala