Canonical Allele Identifier: CA421231634
Gene: ADAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1345497
ClinVar RCV Id: RCV002037333
dbSNP Id: rs2101585294
MyVariant Identifiers: chr1:g.154562276T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154589800T>C , CM000663.2:g.154589800T>C GRCh38
NC_000001.10:g.154562276T>C , CM000663.1:g.154562276T>C GRCh37
NC_000001.9:g.152828900T>C NCBI36
NG_011844.1:g.43162A>G
NG_011844.2:g.46761A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649042.2:c.2519A>G ENSP00000497790.2:n.2519A>G
ENST00000649724.2:c.2655A>G ENSP00000497932.2:p.Lys885=
ENST00000680270.2:c.2508A>G ENSP00000505532.2:p.Lys836=
ENST00000681056.2:c.2277A>G ENSP00000506234.2:p.Lys759=
ENST00000368471.8:c.1740A>G ENSP00000357456.3:p.Lys580=
ENST00000368474.9:c.2625A>G MANE Select ENSP00000357459.4:p.Lys875=
ENST00000529168.2:c.2547A>G ENSP00000431794.2:p.Lys849=
ENST00000647682.2:n.2610A>G
ENST00000648231.2:c.1740A>G ENSP00000497555.1:p.Lys580=
ENST00000648311.1:c.1740A>G ENSP00000498137.1:p.Lys580=
ENST00000648714.2:c.*100A>G ENSP00000497434.2:n.*100A>G
ENST00000649021.1:n.2661A>G
ENST00000649022.2:c.1740A>G ENSP00000496896.2:p.Lys580=
ENST00000649042.1:c.1740A>G ENSP00000497790.1:p.Lys580=
ENST00000649408.2:c.2625A>G ENSP00000497386.2:p.Lys875=
ENST00000649724.1:c.1740A>G ENSP00000497932.1:p.Lys580=
ENST00000649749.1:c.1740A>G ENSP00000497210.1:p.Lys580=
ENST00000679375.1:c.*857A>G ENSP00000505887.1:n.*857A>G
ENST00000679465.1:n.3078A>G
ENST00000679805.1:n.2661A>G
ENST00000679899.1:c.1683A>G ENSP00000505996.1:p.Lys561=
ENST00000680270.1:c.1740A>G ENSP00000505532.1:p.Lys580=
ENST00000680305.1:c.2625A>G ENSP00000506312.1:p.Lys875=
ENST00000681056.1:c.1740A>G ENSP00000506234.1:p.Lys580=
ENST00000681235.1:c.*2147A>G ENSP00000506606.1:n.*2147A>G
ENST00000681429.1:n.1885A>G
ENST00000681683.1:c.1740A>G ENSP00000506666.1:p.Lys580=
ENST00000681786.1:n.3078A>G
ENST00000681901.1:c.*2225A>G ENSP00000504883.1:n.*2225A>G
ENST00000368471.7:c.1740A>G ENSP00000357456.3:p.Lys580=
ENST00000368474.8:c.2625A>G ENSP00000357459.4:p.Lys875=
ENST00000529168.1:c.2532A>G ENSP00000431794.1:p.Lys844=
NM_001025107.2:c.1740A>G NP_001020278.1:p.Lys580=
NM_001111.4:c.2625A>G NP_001102.2:p.Lys875=
NM_001193495.1:c.1740A>G NP_001180424.1:p.Lys580=
NM_015840.3:c.2547A>G NP_056655.2:p.Lys849=
NM_015841.3:c.2490A>G NP_056656.2:p.Lys830=
XM_006711109.1:c.2655A>G XP_006711172.1:p.Lys885=
XM_006711111.2:c.1740A>G XP_006711174.1:p.Lys580=
XM_006711112.1:c.1740A>G XP_006711175.1:p.Lys580=
XM_006711113.1:c.1740A>G XP_006711176.1:p.Lys580=
XM_011509060.1:c.2754A>G XP_011507362.1:p.Lys918=
XM_011509061.1:c.2676A>G XP_011507363.1:p.Lys892=
XM_011509062.1:c.2643A>G XP_011507364.1:p.Lys881=
NM_001025107.3:c.1740A>G NP_001020278.1:p.Lys580=
NM_001111.5:c.2625A>G MANE Select NP_001102.3:p.Lys875=
NM_001193495.2:c.1740A>G NP_001180424.1:p.Lys580=
NM_001365045.1:c.2652A>G NP_001351974.1:p.Lys884=
NM_001365046.1:c.1740A>G NP_001351975.1:p.Lys580=
NM_001365047.1:c.1740A>G NP_001351976.1:p.Lys580=
NM_001365048.1:c.1740A>G NP_001351977.1:p.Lys580=
NM_001365049.1:c.1662A>G NP_001351978.1:p.Lys554=
NM_015840.4:c.2547A>G NP_056655.3:p.Lys849=
NM_015841.4:c.2490A>G NP_056656.3:p.Lys830=
XM_006711113.2:c.1740A>G XP_006711176.1:p.Lys580=
XM_011509061.2:c.1662A>G XP_011507363.2:p.Lys554=
XM_024449674.1:c.2754A>G XP_024305442.1:p.Lys918=