Canonical Allele Identifier: CA1131204

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2927323
• ClinVar RCV Id: RCV003781513
• dbSNP Id: rs772025392
• ExAC: 1:154562248 C / T
• gnomAD v2: 1-154562248-C-T
• gnomAD v3: 1-154589772-C-T
• gnomAD v4: 1-154589772-C-T
• MyVariant Identifiers: chr1:g.154562248C>T (hg19) ; chr1:g.154589772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589772C>T , CM000663.2:g.154589772C>T	GRCh38
NC_000001.10:g.154562248C>T , CM000663.1:g.154562248C>T	GRCh37
NC_000001.9:g.152828872C>T	NCBI36
NG_011844.1:g.43190G>A
NG_011844.2:g.46789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2547G>A	ENSP00000497790.2:n.2547G>A
ENST00000649724.2:c.2683G>A	ENSP00000497932.2:p.Val895Ile
ENST00000680270.2:c.2536G>A	ENSP00000505532.2:p.Val846Ile
ENST00000681056.2:c.2305G>A	ENSP00000506234.2:p.Val769Ile
ENST00000368471.8:c.1768G>A	ENSP00000357456.3:p.Val590Ile
ENST00000368474.9:c.2653G>A MANE Select	ENSP00000357459.4:p.Val885Ile
ENST00000529168.2:c.2575G>A	ENSP00000431794.2:p.Val859Ile
ENST00000647682.2:n.2638G>A
ENST00000648231.2:c.1768G>A	ENSP00000497555.1:p.Val590Ile
ENST00000648311.1:c.1768G>A	ENSP00000498137.1:p.Val590Ile
ENST00000648714.2:c.*128G>A	ENSP00000497434.2:n.*128G>A
ENST00000649021.1:n.2689G>A
ENST00000649022.2:c.1768G>A	ENSP00000496896.2:p.Val590Ile
ENST00000649042.1:c.1768G>A	ENSP00000497790.1:p.Val590Ile
ENST00000649408.2:c.2653G>A	ENSP00000497386.2:p.Val885Ile
ENST00000649724.1:c.1768G>A	ENSP00000497932.1:p.Val590Ile
ENST00000649749.1:c.1768G>A	ENSP00000497210.1:p.Val590Ile
ENST00000679375.1:c.*885G>A	ENSP00000505887.1:n.*885G>A
ENST00000679465.1:n.3106G>A
ENST00000679805.1:n.2689G>A
ENST00000679899.1:c.1711G>A	ENSP00000505996.1:p.Val571Ile
ENST00000680270.1:c.1768G>A	ENSP00000505532.1:p.Val590Ile
ENST00000680305.1:c.2653G>A	ENSP00000506312.1:p.Val885Ile
ENST00000681056.1:c.1768G>A	ENSP00000506234.1:p.Val590Ile
ENST00000681235.1:c.*2175G>A	ENSP00000506606.1:n.*2175G>A
ENST00000681429.1:n.1913G>A
ENST00000681683.1:c.1768G>A	ENSP00000506666.1:p.Val590Ile
ENST00000681786.1:n.3106G>A
ENST00000681901.1:c.*2253G>A	ENSP00000504883.1:n.*2253G>A
ENST00000368471.7:c.1768G>A	ENSP00000357456.3:p.Val590Ile
ENST00000368474.8:c.2653G>A	ENSP00000357459.4:p.Val885Ile
ENST00000529168.1:c.2560G>A	ENSP00000431794.1:p.Val854Ile
NM_001025107.2:c.1768G>A	NP_001020278.1:p.Val590Ile
NM_001111.4:c.2653G>A	NP_001102.2:p.Val885Ile
NM_001193495.1:c.1768G>A	NP_001180424.1:p.Val590Ile
NM_015840.3:c.2575G>A	NP_056655.2:p.Val859Ile
NM_015841.3:c.2518G>A	NP_056656.2:p.Val840Ile
XM_006711109.1:c.2683G>A	XP_006711172.1:p.Val895Ile
XM_006711111.2:c.1768G>A	XP_006711174.1:p.Val590Ile
XM_006711112.1:c.1768G>A	XP_006711175.1:p.Val590Ile
XM_006711113.1:c.1768G>A	XP_006711176.1:p.Val590Ile
XM_011509060.1:c.2782G>A	XP_011507362.1:p.Val928Ile
XM_011509061.1:c.2704G>A	XP_011507363.1:p.Val902Ile
XM_011509062.1:c.2671G>A	XP_011507364.1:p.Val891Ile
NM_001025107.3:c.1768G>A	NP_001020278.1:p.Val590Ile
NM_001111.5:c.2653G>A MANE Select	NP_001102.3:p.Val885Ile
NM_001193495.2:c.1768G>A	NP_001180424.1:p.Val590Ile
NM_001365045.1:c.2680G>A	NP_001351974.1:p.Val894Ile
NM_001365046.1:c.1768G>A	NP_001351975.1:p.Val590Ile
NM_001365047.1:c.1768G>A	NP_001351976.1:p.Val590Ile
NM_001365048.1:c.1768G>A	NP_001351977.1:p.Val590Ile
NM_001365049.1:c.1690G>A	NP_001351978.1:p.Val564Ile
NM_015840.4:c.2575G>A	NP_056655.3:p.Val859Ile
NM_015841.4:c.2518G>A	NP_056656.3:p.Val840Ile
XM_006711113.2:c.1768G>A	XP_006711176.1:p.Val590Ile
XM_011509061.2:c.1690G>A	XP_011507363.2:p.Val564Ile
XM_024449674.1:c.2782G>A	XP_024305442.1:p.Val928Ile