Canonical Allele Identifier: CA421225744

Gene: ADAR

Linked Data

• ClinVar Variation Id: 1559911
• ClinVar RCV Id: RCV002209009
• dbSNP Id: rs1457956246
• MyVariant Identifiers: chr1:g.154574721G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154602245G>A , CM000663.2:g.154602245G>A	GRCh38
NC_000001.10:g.154574721G>A , CM000663.1:g.154574721G>A	GRCh37
NC_000001.9:g.152841345G>A	NCBI36
NG_011844.1:g.30717C>T
NG_011844.2:g.34316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.291C>T	ENSP00000497790.2:p.Asn97=
ENST00000649724.2:c.427C>T	ENSP00000497932.2:p.Leu143=
ENST00000680270.2:c.427C>T	ENSP00000505532.2:p.Leu143=
ENST00000681056.2:c.49C>T	ENSP00000506234.2:p.Leu17=
ENST00000368471.8:c.-489C>T	ENSP00000357456.3:n.-489C>T
ENST00000368474.9:c.397C>T MANE Select	ENSP00000357459.4:p.Leu133=
ENST00000471068.2:n.394C>T
ENST00000526905.2:n.261C>T
ENST00000529168.2:c.397C>T	ENSP00000431794.2:p.Leu133=
ENST00000647682.2:n.127C>T
ENST00000648231.2:c.-489C>T	ENSP00000497555.1:n.-489C>T
ENST00000648311.1:c.-489C>T	ENSP00000498137.1:n.-489C>T
ENST00000648714.2:c.397C>T	ENSP00000497434.2:p.Leu133=
ENST00000648871.1:c.-489C>T	ENSP00000497793.1:n.-489C>T
ENST00000649021.1:n.433C>T
ENST00000649022.2:c.-489C>T	ENSP00000496896.2:n.-489C>T
ENST00000649042.1:c.-489C>T	ENSP00000497790.1:n.-489C>T
ENST00000649408.2:c.397C>T	ENSP00000497386.2:p.Leu133=
ENST00000649724.1:c.-489C>T	ENSP00000497932.1:n.-489C>T
ENST00000649749.1:c.-489C>T	ENSP00000497210.1:n.-489C>T
ENST00000679375.1:c.-489C>T	ENSP00000505887.1:n.-489C>T
ENST00000679465.1:n.595C>T
ENST00000679805.1:n.433C>T
ENST00000679899.1:c.-489C>T	ENSP00000505996.1:n.-489C>T
ENST00000680270.1:c.-342C>T	ENSP00000505532.1:n.-342C>T
ENST00000680305.1:c.397C>T	ENSP00000506312.1:p.Leu133=
ENST00000680472.1:n.436C>T
ENST00000681056.1:c.-489C>T	ENSP00000506234.1:n.-489C>T
ENST00000681235.1:c.261C>T	ENSP00000506606.1:p.Asn87=
ENST00000681683.1:c.-489C>T	ENSP00000506666.1:n.-489C>T
ENST00000681786.1:n.595C>T
ENST00000681901.1:c.261C>T	ENSP00000504883.1:p.Asn87=
ENST00000368471.7:c.-489C>T	ENSP00000357456.3:n.-489C>T
ENST00000368474.8:c.397C>T	ENSP00000357459.4:p.Leu133=
ENST00000463920.5:n.279C>T
ENST00000471068.1:n.428C>T
ENST00000494866.1:n.304C>T
ENST00000526905.1:n.444C>T
ENST00000529168.1:c.382C>T	ENSP00000431794.1:p.Leu128=
NM_001025107.2:c.-489C>T	NP_001020278.1:n.-489C>T
NM_001111.4:c.397C>T	NP_001102.2:p.Leu133=
NM_001193495.1:c.-489C>T	NP_001180424.1:n.-489C>T
NM_015840.3:c.397C>T	NP_056655.2:p.Leu133=
NM_015841.3:c.397C>T	NP_056656.2:p.Leu133=
XM_006711109.1:c.427C>T	XP_006711172.1:p.Leu143=
XM_006711111.2:c.-489C>T	XP_006711174.1:n.-489C>T
XM_006711112.1:c.-489C>T	XP_006711175.1:n.-489C>T
XM_006711113.1:c.-489C>T	XP_006711176.1:n.-489C>T
XM_011509060.1:c.526C>T	XP_011507362.1:p.Leu176=
XM_011509061.1:c.526C>T	XP_011507363.1:p.Leu176=
XM_011509062.1:c.415C>T	XP_011507364.1:p.Leu139=
NM_001025107.3:c.-489C>T	NP_001020278.1:n.-489C>T
NM_001111.5:c.397C>T MANE Select	NP_001102.3:p.Leu133=
NM_001193495.2:c.-489C>T	NP_001180424.1:n.-489C>T
NM_001365045.1:c.424C>T	NP_001351974.1:p.Leu142=
NM_001365046.1:c.-489C>T	NP_001351975.1:n.-489C>T
NM_001365047.1:c.-489C>T	NP_001351976.1:n.-489C>T
NM_001365048.1:c.-489C>T	NP_001351977.1:n.-489C>T
NM_001365049.1:c.-489C>T	NP_001351978.1:n.-489C>T
NM_015840.4:c.397C>T	NP_056655.3:p.Leu133=
NM_015841.4:c.397C>T	NP_056656.3:p.Leu133=
XM_006711113.2:c.-489C>T	XP_006711176.1:n.-489C>T
XM_011509061.2:c.-489C>T	XP_011507363.2:n.-489C>T
XM_024449674.1:c.526C>T	XP_024305442.1:p.Leu176=