Canonical Allele Identifier: CA342636792

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2123252
• ClinVar RCV Id: RCV003047275
• gnomAD v4: 1-154589782-C-G
• MyVariant Identifiers: chr1:g.154562258C>G (hg19) ; chr1:g.154589782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589782C>G , CM000663.2:g.154589782C>G	GRCh38
NC_000001.10:g.154562258C>G , CM000663.1:g.154562258C>G	GRCh37
NC_000001.9:g.152828882C>G	NCBI36
NG_011844.1:g.43180G>C
NG_011844.2:g.46779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2537G>C	ENSP00000497790.2:n.2537G>C
ENST00000649724.2:c.2673G>C	ENSP00000497932.2:p.Met891Ile
ENST00000680270.2:c.2526G>C	ENSP00000505532.2:p.Met842Ile
ENST00000681056.2:c.2295G>C	ENSP00000506234.2:p.Met765Ile
ENST00000368471.8:c.1758G>C	ENSP00000357456.3:p.Met586Ile
ENST00000368474.9:c.2643G>C MANE Select	ENSP00000357459.4:p.Met881Ile
ENST00000529168.2:c.2565G>C	ENSP00000431794.2:p.Met855Ile
ENST00000647682.2:n.2628G>C
ENST00000648231.2:c.1758G>C	ENSP00000497555.1:p.Met586Ile
ENST00000648311.1:c.1758G>C	ENSP00000498137.1:p.Met586Ile
ENST00000648714.2:c.*118G>C	ENSP00000497434.2:n.*118G>C
ENST00000649021.1:n.2679G>C
ENST00000649022.2:c.1758G>C	ENSP00000496896.2:p.Met586Ile
ENST00000649042.1:c.1758G>C	ENSP00000497790.1:p.Met586Ile
ENST00000649408.2:c.2643G>C	ENSP00000497386.2:p.Met881Ile
ENST00000649724.1:c.1758G>C	ENSP00000497932.1:p.Met586Ile
ENST00000649749.1:c.1758G>C	ENSP00000497210.1:p.Met586Ile
ENST00000679375.1:c.*875G>C	ENSP00000505887.1:n.*875G>C
ENST00000679465.1:n.3096G>C
ENST00000679805.1:n.2679G>C
ENST00000679899.1:c.1701G>C	ENSP00000505996.1:p.Met567Ile
ENST00000680270.1:c.1758G>C	ENSP00000505532.1:p.Met586Ile
ENST00000680305.1:c.2643G>C	ENSP00000506312.1:p.Met881Ile
ENST00000681056.1:c.1758G>C	ENSP00000506234.1:p.Met586Ile
ENST00000681235.1:c.*2165G>C	ENSP00000506606.1:n.*2165G>C
ENST00000681429.1:n.1903G>C
ENST00000681683.1:c.1758G>C	ENSP00000506666.1:p.Met586Ile
ENST00000681786.1:n.3096G>C
ENST00000681901.1:c.*2243G>C	ENSP00000504883.1:n.*2243G>C
ENST00000368471.7:c.1758G>C	ENSP00000357456.3:p.Met586Ile
ENST00000368474.8:c.2643G>C	ENSP00000357459.4:p.Met881Ile
ENST00000529168.1:c.2550G>C	ENSP00000431794.1:p.Met850Ile
NM_001025107.2:c.1758G>C	NP_001020278.1:p.Met586Ile
NM_001111.4:c.2643G>C	NP_001102.2:p.Met881Ile
NM_001193495.1:c.1758G>C	NP_001180424.1:p.Met586Ile
NM_015840.3:c.2565G>C	NP_056655.2:p.Met855Ile
NM_015841.3:c.2508G>C	NP_056656.2:p.Met836Ile
XM_006711109.1:c.2673G>C	XP_006711172.1:p.Met891Ile
XM_006711111.2:c.1758G>C	XP_006711174.1:p.Met586Ile
XM_006711112.1:c.1758G>C	XP_006711175.1:p.Met586Ile
XM_006711113.1:c.1758G>C	XP_006711176.1:p.Met586Ile
XM_011509060.1:c.2772G>C	XP_011507362.1:p.Met924Ile
XM_011509061.1:c.2694G>C	XP_011507363.1:p.Met898Ile
XM_011509062.1:c.2661G>C	XP_011507364.1:p.Met887Ile
NM_001025107.3:c.1758G>C	NP_001020278.1:p.Met586Ile
NM_001111.5:c.2643G>C MANE Select	NP_001102.3:p.Met881Ile
NM_001193495.2:c.1758G>C	NP_001180424.1:p.Met586Ile
NM_001365045.1:c.2670G>C	NP_001351974.1:p.Met890Ile
NM_001365046.1:c.1758G>C	NP_001351975.1:p.Met586Ile
NM_001365047.1:c.1758G>C	NP_001351976.1:p.Met586Ile
NM_001365048.1:c.1758G>C	NP_001351977.1:p.Met586Ile
NM_001365049.1:c.1680G>C	NP_001351978.1:p.Met560Ile
NM_015840.4:c.2565G>C	NP_056655.3:p.Met855Ile
NM_015841.4:c.2508G>C	NP_056656.3:p.Met836Ile
XM_006711113.2:c.1758G>C	XP_006711176.1:p.Met586Ile
XM_011509061.2:c.1680G>C	XP_011507363.2:p.Met560Ile
XM_024449674.1:c.2772G>C	XP_024305442.1:p.Met924Ile