Canonical Allele Identifier: CA342636194

Gene: ADAR

Linked Data

• ClinVar Variation Id: 1723840
• ClinVar RCV Id: RCV002306401 ; RCV003775025
• gnomAD v4: 1-154588250-G-A
• MyVariant Identifiers: chr1:g.154560726G>A (hg19) ; chr1:g.154588250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154588250G>A , CM000663.2:g.154588250G>A	GRCh38
NC_000001.10:g.154560726G>A , CM000663.1:g.154560726G>A	GRCh37
NC_000001.9:g.152827350G>A	NCBI36
NG_011844.1:g.44712C>T
NG_011844.2:g.48311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2788C>T	ENSP00000497790.2:n.2788C>T
ENST00000649724.2:c.2924C>T	ENSP00000497932.2:p.Pro975Leu
ENST00000680270.2:c.2777C>T	ENSP00000505532.2:p.Pro926Leu
ENST00000681056.2:c.2546C>T	ENSP00000506234.2:p.Pro849Leu
ENST00000368471.8:c.2009C>T	ENSP00000357456.3:p.Pro670Leu
ENST00000368474.9:c.2894C>T MANE Select	ENSP00000357459.4:p.Pro965Leu
ENST00000529168.2:c.2816C>T	ENSP00000431794.2:p.Pro939Leu
ENST00000647682.2:n.2879C>T
ENST00000648231.2:c.2009C>T	ENSP00000497555.1:p.Pro670Leu
ENST00000648311.1:c.2009C>T	ENSP00000498137.1:p.Pro670Leu
ENST00000648714.2:c.*369C>T	ENSP00000497434.2:n.*369C>T
ENST00000649021.1:n.3222C>T
ENST00000649022.2:c.2009C>T	ENSP00000496896.2:p.Pro670Leu
ENST00000649042.1:c.2009C>T	ENSP00000497790.1:p.Pro670Leu
ENST00000649408.2:c.2894C>T	ENSP00000497386.2:p.Pro965Leu
ENST00000649724.1:c.2009C>T	ENSP00000497932.1:p.Pro670Leu
ENST00000649749.1:c.2009C>T	ENSP00000497210.1:p.Pro670Leu
ENST00000679375.1:c.*1126C>T	ENSP00000505887.1:n.*1126C>T
ENST00000679465.1:n.3347C>T
ENST00000679805.1:n.3222C>T
ENST00000679899.1:c.1952C>T	ENSP00000505996.1:p.Pro651Leu
ENST00000680270.1:c.2009C>T	ENSP00000505532.1:p.Pro670Leu
ENST00000680305.1:c.2894C>T	ENSP00000506312.1:p.Pro965Leu
ENST00000681056.1:c.2009C>T	ENSP00000506234.1:p.Pro670Leu
ENST00000681235.1:c.*2416C>T	ENSP00000506606.1:n.*2416C>T
ENST00000681429.1:n.2154C>T
ENST00000681683.1:c.2009C>T	ENSP00000506666.1:p.Pro670Leu
ENST00000681786.1:n.3347C>T
ENST00000681901.1:c.*2494C>T	ENSP00000504883.1:n.*2494C>T
ENST00000368471.7:c.2009C>T	ENSP00000357456.3:p.Pro670Leu
ENST00000368474.8:c.2894C>T	ENSP00000357459.4:p.Pro965Leu
ENST00000529168.1:c.2801C>T	ENSP00000431794.1:p.Pro934Leu
ENST00000530954.1:n.31C>T
ENST00000534279.1:n.353C>T
NM_001025107.2:c.2009C>T	NP_001020278.1:p.Pro670Leu
NM_001111.4:c.2894C>T	NP_001102.2:p.Pro965Leu
NM_001193495.1:c.2009C>T	NP_001180424.1:p.Pro670Leu
NM_015840.3:c.2816C>T	NP_056655.2:p.Pro939Leu
NM_015841.3:c.2759C>T	NP_056656.2:p.Pro920Leu
XM_006711109.1:c.2924C>T	XP_006711172.1:p.Pro975Leu
XM_006711111.2:c.2009C>T	XP_006711174.1:p.Pro670Leu
XM_006711112.1:c.2009C>T	XP_006711175.1:p.Pro670Leu
XM_006711113.1:c.2009C>T	XP_006711176.1:p.Pro670Leu
XM_011509060.1:c.3023C>T	XP_011507362.1:p.Pro1008Leu
XM_011509061.1:c.2945C>T	XP_011507363.1:p.Pro982Leu
XM_011509062.1:c.2912C>T	XP_011507364.1:p.Pro971Leu
NM_001025107.3:c.2009C>T	NP_001020278.1:p.Pro670Leu
NM_001111.5:c.2894C>T MANE Select	NP_001102.3:p.Pro965Leu
NM_001193495.2:c.2009C>T	NP_001180424.1:p.Pro670Leu
NM_001365045.1:c.2921C>T	NP_001351974.1:p.Pro974Leu
NM_001365046.1:c.2009C>T	NP_001351975.1:p.Pro670Leu
NM_001365047.1:c.2009C>T	NP_001351976.1:p.Pro670Leu
NM_001365048.1:c.2009C>T	NP_001351977.1:p.Pro670Leu
NM_001365049.1:c.1931C>T	NP_001351978.1:p.Pro644Leu
NM_015840.4:c.2816C>T	NP_056655.3:p.Pro939Leu
NM_015841.4:c.2759C>T	NP_056656.3:p.Pro920Leu
XM_006711113.2:c.2009C>T	XP_006711176.1:p.Pro670Leu
XM_011509061.2:c.1931C>T	XP_011507363.2:p.Pro644Leu
XM_024449674.1:c.3023C>T	XP_024305442.1:p.Pro1008Leu