Canonical Allele Identifier: CA421231644

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2954401
• ClinVar RCV Id: RCV003813624
• MyVariant Identifiers: chr1:g.154562294C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589818C>A , CM000663.2:g.154589818C>A	GRCh38
NC_000001.10:g.154562294C>A , CM000663.1:g.154562294C>A	GRCh37
NC_000001.9:g.152828918C>A	NCBI36
NG_011844.1:g.43144G>T
NG_011844.2:g.46743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2501G>T	ENSP00000497790.2:n.2501G>T
ENST00000649724.2:c.2637G>T	ENSP00000497932.2:p.Leu879=
ENST00000680270.2:c.2490G>T	ENSP00000505532.2:p.Leu830=
ENST00000681056.2:c.2259G>T	ENSP00000506234.2:p.Leu753=
ENST00000368471.8:c.1722G>T	ENSP00000357456.3:p.Leu574=
ENST00000368474.9:c.2607G>T MANE Select	ENSP00000357459.4:p.Leu869=
ENST00000529168.2:c.2529G>T	ENSP00000431794.2:p.Leu843=
ENST00000647682.2:n.2592G>T
ENST00000648231.2:c.1722G>T	ENSP00000497555.1:p.Leu574=
ENST00000648311.1:c.1722G>T	ENSP00000498137.1:p.Leu574=
ENST00000648714.2:c.*82G>T	ENSP00000497434.2:n.*82G>T
ENST00000649021.1:n.2643G>T
ENST00000649022.2:c.1722G>T	ENSP00000496896.2:p.Leu574=
ENST00000649042.1:c.1722G>T	ENSP00000497790.1:p.Leu574=
ENST00000649408.2:c.2607G>T	ENSP00000497386.2:p.Leu869=
ENST00000649724.1:c.1722G>T	ENSP00000497932.1:p.Leu574=
ENST00000649749.1:c.1722G>T	ENSP00000497210.1:p.Leu574=
ENST00000679375.1:c.*839G>T	ENSP00000505887.1:n.*839G>T
ENST00000679465.1:n.3060G>T
ENST00000679805.1:n.2643G>T
ENST00000679899.1:c.1665G>T	ENSP00000505996.1:p.Leu555=
ENST00000680270.1:c.1722G>T	ENSP00000505532.1:p.Leu574=
ENST00000680305.1:c.2607G>T	ENSP00000506312.1:p.Leu869=
ENST00000681056.1:c.1722G>T	ENSP00000506234.1:p.Leu574=
ENST00000681235.1:c.*2129G>T	ENSP00000506606.1:n.*2129G>T
ENST00000681429.1:n.1867G>T
ENST00000681683.1:c.1722G>T	ENSP00000506666.1:p.Leu574=
ENST00000681786.1:n.3060G>T
ENST00000681901.1:c.*2207G>T	ENSP00000504883.1:n.*2207G>T
ENST00000368471.7:c.1722G>T	ENSP00000357456.3:p.Leu574=
ENST00000368474.8:c.2607G>T	ENSP00000357459.4:p.Leu869=
ENST00000529168.1:c.2514G>T	ENSP00000431794.1:p.Leu838=
NM_001025107.2:c.1722G>T	NP_001020278.1:p.Leu574=
NM_001111.4:c.2607G>T	NP_001102.2:p.Leu869=
NM_001193495.1:c.1722G>T	NP_001180424.1:p.Leu574=
NM_015840.3:c.2529G>T	NP_056655.2:p.Leu843=
NM_015841.3:c.2472G>T	NP_056656.2:p.Leu824=
XM_006711109.1:c.2637G>T	XP_006711172.1:p.Leu879=
XM_006711111.2:c.1722G>T	XP_006711174.1:p.Leu574=
XM_006711112.1:c.1722G>T	XP_006711175.1:p.Leu574=
XM_006711113.1:c.1722G>T	XP_006711176.1:p.Leu574=
XM_011509060.1:c.2736G>T	XP_011507362.1:p.Leu912=
XM_011509061.1:c.2658G>T	XP_011507363.1:p.Leu886=
XM_011509062.1:c.2625G>T	XP_011507364.1:p.Leu875=
NM_001025107.3:c.1722G>T	NP_001020278.1:p.Leu574=
NM_001111.5:c.2607G>T MANE Select	NP_001102.3:p.Leu869=
NM_001193495.2:c.1722G>T	NP_001180424.1:p.Leu574=
NM_001365045.1:c.2634G>T	NP_001351974.1:p.Leu878=
NM_001365046.1:c.1722G>T	NP_001351975.1:p.Leu574=
NM_001365047.1:c.1722G>T	NP_001351976.1:p.Leu574=
NM_001365048.1:c.1722G>T	NP_001351977.1:p.Leu574=
NM_001365049.1:c.1644G>T	NP_001351978.1:p.Leu548=
NM_015840.4:c.2529G>T	NP_056655.3:p.Leu843=
NM_015841.4:c.2472G>T	NP_056656.3:p.Leu824=
XM_006711113.2:c.1722G>T	XP_006711176.1:p.Leu574=
XM_011509061.2:c.1644G>T	XP_011507363.2:p.Leu548=
XM_024449674.1:c.2736G>T	XP_024305442.1:p.Leu912=