Canonical Allele Identifier: CA342604570

Gene: ADAR

Linked Data

• dbSNP Id: rs760509994
• gnomAD v2: 1-154574812-C-G
• gnomAD v4: 1-154602336-C-G
• MyVariant Identifiers: chr1:g.154574812C>G (hg19) ; chr1:g.154602336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154602336C>G , CM000663.2:g.154602336C>G	GRCh38
NC_000001.10:g.154574812C>G , CM000663.1:g.154574812C>G	GRCh37
NC_000001.9:g.152841436C>G	NCBI36
NG_011844.1:g.30626G>C
NG_011844.2:g.34225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.287+49G>C	ENSP00000497790.2:n.287+49G>C
ENST00000649724.2:c.336G>C	ENSP00000497932.2:p.Gln112His
ENST00000680270.2:c.336G>C	ENSP00000505532.2:p.Gln112His
ENST00000681056.2:c.46-88G>C	ENSP00000506234.2:n.46-88G>C
ENST00000368471.8:c.-580G>C	ENSP00000357456.3:n.-580G>C
ENST00000368474.9:c.306G>C MANE Select	ENSP00000357459.4:p.Gln102His
ENST00000471068.2:n.390+49G>C
ENST00000526905.2:n.257+49G>C
ENST00000529168.2:c.306G>C	ENSP00000431794.2:p.Gln102His
ENST00000647682.2:n.124-88G>C
ENST00000648231.2:c.-580G>C	ENSP00000497555.1:n.-580G>C
ENST00000648311.1:c.-580G>C	ENSP00000498137.1:n.-580G>C
ENST00000648714.2:c.306G>C	ENSP00000497434.2:p.Gln102His
ENST00000648871.1:c.-492-88G>C	ENSP00000497793.1:n.-492-88G>C
ENST00000649021.1:n.342G>C
ENST00000649022.2:c.-580G>C	ENSP00000496896.2:n.-580G>C
ENST00000649042.1:c.-493+49G>C	ENSP00000497790.1:n.-493+49G>C
ENST00000649408.2:c.306G>C	ENSP00000497386.2:p.Gln102His
ENST00000649724.1:c.-580G>C	ENSP00000497932.1:n.-580G>C
ENST00000649749.1:c.-580G>C	ENSP00000497210.1:n.-580G>C
ENST00000679375.1:c.-492-88G>C	ENSP00000505887.1:n.-492-88G>C
ENST00000679465.1:n.504G>C
ENST00000679805.1:n.342G>C
ENST00000679899.1:c.-580G>C	ENSP00000505996.1:n.-580G>C
ENST00000680270.1:c.-433G>C	ENSP00000505532.1:n.-433G>C
ENST00000680305.1:c.306G>C	ENSP00000506312.1:p.Gln102His
ENST00000680472.1:n.345G>C
ENST00000681056.1:c.-492-88G>C	ENSP00000506234.1:n.-492-88G>C
ENST00000681235.1:c.257+49G>C	ENSP00000506606.1:n.257+49G>C
ENST00000681683.1:c.-493+49G>C	ENSP00000506666.1:n.-493+49G>C
ENST00000681786.1:n.504G>C
ENST00000681901.1:c.257+49G>C	ENSP00000504883.1:n.257+49G>C
ENST00000368471.7:c.-580G>C	ENSP00000357456.3:n.-580G>C
ENST00000368474.8:c.306G>C	ENSP00000357459.4:p.Gln102His
ENST00000463920.5:n.275+49G>C
ENST00000471068.1:n.337G>C
ENST00000494866.1:n.300+49G>C
ENST00000526905.1:n.353G>C
ENST00000529168.1:c.291G>C	ENSP00000431794.1:p.Gln97His
NM_001025107.2:c.-580G>C	NP_001020278.1:n.-580G>C
NM_001111.4:c.306G>C	NP_001102.2:p.Gln102His
NM_001193495.1:c.-580G>C	NP_001180424.1:n.-580G>C
NM_015840.3:c.306G>C	NP_056655.2:p.Gln102His
NM_015841.3:c.306G>C	NP_056656.2:p.Gln102His
XM_006711109.1:c.336G>C	XP_006711172.1:p.Gln112His
XM_006711111.2:c.-493+49G>C	XP_006711174.1:n.-493+49G>C
XM_006711112.1:c.-493+49G>C	XP_006711175.1:n.-493+49G>C
XM_006711113.1:c.-493+49G>C	XP_006711176.1:n.-493+49G>C
XM_011509060.1:c.435G>C	XP_011507362.1:p.Gln145His
XM_011509061.1:c.435G>C	XP_011507363.1:p.Gln145His
XM_011509062.1:c.324G>C	XP_011507364.1:p.Gln108His
NM_001025107.3:c.-580G>C	NP_001020278.1:n.-580G>C
NM_001111.5:c.306G>C MANE Select	NP_001102.3:p.Gln102His
NM_001193495.2:c.-580G>C	NP_001180424.1:n.-580G>C
NM_001365045.1:c.333G>C	NP_001351974.1:p.Gln111His
NM_001365046.1:c.-493+49G>C	NP_001351975.1:n.-493+49G>C
NM_001365047.1:c.-493+49G>C	NP_001351976.1:n.-493+49G>C
NM_001365048.1:c.-580G>C	NP_001351977.1:n.-580G>C
NM_001365049.1:c.-493+49G>C	NP_001351978.1:n.-493+49G>C
NM_015840.4:c.306G>C	NP_056655.3:p.Gln102His
NM_015841.4:c.306G>C	NP_056656.3:p.Gln102His
XM_006711113.2:c.-493+49G>C	XP_006711176.1:n.-493+49G>C
XM_011509061.2:c.-580G>C	XP_011507363.2:n.-580G>C
XM_024449674.1:c.435G>C	XP_024305442.1:p.Gln145His