Canonical Allele Identifier: CA342604480

Gene: ADAR

Linked Data

• dbSNP Id: rs1327279065
• gnomAD v2: 1-154574803-C-G
• COSMIC: COSM1295146 ; COSM4812002
• MyVariant Identifiers: chr1:g.154574803C>G (hg19) ; chr1:g.154602327C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154602327C>G , CM000663.2:g.154602327C>G	GRCh38
NC_000001.10:g.154574803C>G , CM000663.1:g.154574803C>G	GRCh37
NC_000001.9:g.152841427C>G	NCBI36
NG_011844.1:g.30635G>C
NG_011844.2:g.34234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.287+58G>C	ENSP00000497790.2:n.287+58G>C
ENST00000649724.2:c.345G>C	ENSP00000497932.2:p.Gln115His
ENST00000680270.2:c.345G>C	ENSP00000505532.2:p.Gln115His
ENST00000681056.2:c.46-79G>C	ENSP00000506234.2:n.46-79G>C
ENST00000368471.8:c.-571G>C	ENSP00000357456.3:n.-571G>C
ENST00000368474.9:c.315G>C MANE Select	ENSP00000357459.4:p.Gln105His
ENST00000471068.2:n.390+58G>C
ENST00000526905.2:n.257+58G>C
ENST00000529168.2:c.315G>C	ENSP00000431794.2:p.Gln105His
ENST00000647682.2:n.124-79G>C
ENST00000648231.2:c.-571G>C	ENSP00000497555.1:n.-571G>C
ENST00000648311.1:c.-571G>C	ENSP00000498137.1:n.-571G>C
ENST00000648714.2:c.315G>C	ENSP00000497434.2:p.Gln105His
ENST00000648871.1:c.-492-79G>C	ENSP00000497793.1:n.-492-79G>C
ENST00000649021.1:n.351G>C
ENST00000649022.2:c.-571G>C	ENSP00000496896.2:n.-571G>C
ENST00000649042.1:c.-493+58G>C	ENSP00000497790.1:n.-493+58G>C
ENST00000649408.2:c.315G>C	ENSP00000497386.2:p.Gln105His
ENST00000649724.1:c.-571G>C	ENSP00000497932.1:n.-571G>C
ENST00000649749.1:c.-571G>C	ENSP00000497210.1:n.-571G>C
ENST00000679375.1:c.-492-79G>C	ENSP00000505887.1:n.-492-79G>C
ENST00000679465.1:n.513G>C
ENST00000679805.1:n.351G>C
ENST00000679899.1:c.-571G>C	ENSP00000505996.1:n.-571G>C
ENST00000680270.1:c.-424G>C	ENSP00000505532.1:n.-424G>C
ENST00000680305.1:c.315G>C	ENSP00000506312.1:p.Gln105His
ENST00000680472.1:n.354G>C
ENST00000681056.1:c.-492-79G>C	ENSP00000506234.1:n.-492-79G>C
ENST00000681235.1:c.257+58G>C	ENSP00000506606.1:n.257+58G>C
ENST00000681683.1:c.-493+58G>C	ENSP00000506666.1:n.-493+58G>C
ENST00000681786.1:n.513G>C
ENST00000681901.1:c.257+58G>C	ENSP00000504883.1:n.257+58G>C
ENST00000368471.7:c.-571G>C	ENSP00000357456.3:n.-571G>C
ENST00000368474.8:c.315G>C	ENSP00000357459.4:p.Gln105His
ENST00000463920.5:n.275+58G>C
ENST00000471068.1:n.346G>C
ENST00000494866.1:n.300+58G>C
ENST00000526905.1:n.362G>C
ENST00000529168.1:c.300G>C	ENSP00000431794.1:p.Gln100His
NM_001025107.2:c.-571G>C	NP_001020278.1:n.-571G>C
NM_001111.4:c.315G>C	NP_001102.2:p.Gln105His
NM_001193495.1:c.-571G>C	NP_001180424.1:n.-571G>C
NM_015840.3:c.315G>C	NP_056655.2:p.Gln105His
NM_015841.3:c.315G>C	NP_056656.2:p.Gln105His
XM_006711109.1:c.345G>C	XP_006711172.1:p.Gln115His
XM_006711111.2:c.-493+58G>C	XP_006711174.1:n.-493+58G>C
XM_006711112.1:c.-493+58G>C	XP_006711175.1:n.-493+58G>C
XM_006711113.1:c.-493+58G>C	XP_006711176.1:n.-493+58G>C
XM_011509060.1:c.444G>C	XP_011507362.1:p.Gln148His
XM_011509061.1:c.444G>C	XP_011507363.1:p.Gln148His
XM_011509062.1:c.333G>C	XP_011507364.1:p.Gln111His
NM_001025107.3:c.-571G>C	NP_001020278.1:n.-571G>C
NM_001111.5:c.315G>C MANE Select	NP_001102.3:p.Gln105His
NM_001193495.2:c.-571G>C	NP_001180424.1:n.-571G>C
NM_001365045.1:c.342G>C	NP_001351974.1:p.Gln114His
NM_001365046.1:c.-493+58G>C	NP_001351975.1:n.-493+58G>C
NM_001365047.1:c.-493+58G>C	NP_001351976.1:n.-493+58G>C
NM_001365048.1:c.-571G>C	NP_001351977.1:n.-571G>C
NM_001365049.1:c.-493+58G>C	NP_001351978.1:n.-493+58G>C
NM_015840.4:c.315G>C	NP_056655.3:p.Gln105His
NM_015841.4:c.315G>C	NP_056656.3:p.Gln105His
XM_006711113.2:c.-493+58G>C	XP_006711176.1:n.-493+58G>C
XM_011509061.2:c.-571G>C	XP_011507363.2:n.-571G>C
XM_024449674.1:c.444G>C	XP_024305442.1:p.Gln148His