Canonical Allele Identifier: CA30848545

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2076850
• ClinVar RCV Id: RCV002972526
• dbSNP Id: rs931510849
• MyVariant Identifiers: chr1:g.154557300A>G (hg19) ; chr1:g.154584824A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154584824A>G , CM000663.2:g.154584824A>G	GRCh38
NC_000001.10:g.154557300A>G , CM000663.1:g.154557300A>G	GRCh37
NC_000001.9:g.152823924A>G	NCBI36
NG_011844.1:g.48138T>C
NG_011844.2:g.51737T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.3557T>C	ENSP00000497790.2:n.3557T>C
ENST00000649724.2:c.3693T>C	ENSP00000497932.2:p.Phe1231=
ENST00000680270.2:c.3546T>C	ENSP00000505532.2:p.Phe1182=
ENST00000681056.2:c.3315T>C	ENSP00000506234.2:p.Phe1105=
ENST00000368471.8:c.2778T>C	ENSP00000357456.3:p.Phe926=
ENST00000368474.9:c.3663T>C MANE Select	ENSP00000357459.4:p.Phe1221=
ENST00000492630.2:n.2456T>C
ENST00000529168.2:c.3585T>C	ENSP00000431794.2:p.Phe1195=
ENST00000647682.2:n.3648T>C
ENST00000648231.2:c.2778T>C	ENSP00000497555.1:p.Phe926=
ENST00000648311.1:c.2778T>C	ENSP00000498137.1:p.Phe926=
ENST00000648714.2:c.*1138T>C	ENSP00000497434.2:n.*1138T>C
ENST00000649021.1:n.4399T>C
ENST00000649022.2:c.2778T>C	ENSP00000496896.2:p.Phe926=
ENST00000649042.1:c.2778T>C	ENSP00000497790.1:p.Phe926=
ENST00000649408.2:c.*829T>C	ENSP00000497386.2:n.*829T>C
ENST00000649724.1:c.2778T>C	ENSP00000497932.1:p.Phe926=
ENST00000649749.1:c.2778T>C	ENSP00000497210.1:p.Phe926=
ENST00000679375.1:c.*1895T>C	ENSP00000505887.1:n.*1895T>C
ENST00000679465.1:n.4524T>C
ENST00000679805.1:n.4399T>C
ENST00000679899.1:c.2721T>C	ENSP00000505996.1:p.Phe907=
ENST00000680270.1:c.2778T>C	ENSP00000505532.1:p.Phe926=
ENST00000680305.1:c.3480T>C	ENSP00000506312.1:p.Phe1160=
ENST00000681056.1:c.2778T>C	ENSP00000506234.1:p.Phe926=
ENST00000681235.1:c.*3185T>C	ENSP00000506606.1:n.*3185T>C
ENST00000681429.1:n.3331T>C
ENST00000681683.1:c.2778T>C	ENSP00000506666.1:p.Phe926=
ENST00000681786.1:n.4524T>C
ENST00000681901.1:c.*3263T>C	ENSP00000504883.1:n.*3263T>C
ENST00000368471.7:c.2778T>C	ENSP00000357456.3:p.Phe926=
ENST00000368474.8:c.3663T>C	ENSP00000357459.4:p.Phe1221=
ENST00000492630.1:n.422T>C
ENST00000529168.1:c.3570T>C	ENSP00000431794.1:p.Phe1190=
NM_001025107.2:c.2778T>C	NP_001020278.1:p.Phe926=
NM_001111.4:c.3663T>C	NP_001102.2:p.Phe1221=
NM_001193495.1:c.2778T>C	NP_001180424.1:p.Phe926=
NM_015840.3:c.3585T>C	NP_056655.2:p.Phe1195=
NM_015841.3:c.3528T>C	NP_056656.2:p.Phe1176=
XM_006711109.1:c.3693T>C	XP_006711172.1:p.Phe1231=
XM_006711111.2:c.2778T>C	XP_006711174.1:p.Phe926=
XM_006711112.1:c.2778T>C	XP_006711175.1:p.Phe926=
XM_006711113.1:c.2778T>C	XP_006711176.1:p.Phe926=
XM_011509060.1:c.3792T>C	XP_011507362.1:p.Phe1264=
XM_011509061.1:c.3714T>C	XP_011507363.1:p.Phe1238=
XM_011509062.1:c.3681T>C	XP_011507364.1:p.Phe1227=
NM_001025107.3:c.2778T>C	NP_001020278.1:p.Phe926=
NM_001111.5:c.3663T>C MANE Select	NP_001102.3:p.Phe1221=
NM_001193495.2:c.2778T>C	NP_001180424.1:p.Phe926=
NM_001365045.1:c.3690T>C	NP_001351974.1:p.Phe1230=
NM_001365046.1:c.2778T>C	NP_001351975.1:p.Phe926=
NM_001365047.1:c.2778T>C	NP_001351976.1:p.Phe926=
NM_001365048.1:c.2778T>C	NP_001351977.1:p.Phe926=
NM_001365049.1:c.2700T>C	NP_001351978.1:p.Phe900=
NM_015840.4:c.3585T>C	NP_056655.3:p.Phe1195=
NM_015841.4:c.3528T>C	NP_056656.3:p.Phe1176=
XM_006711113.2:c.2778T>C	XP_006711176.1:p.Phe926=
XM_011509061.2:c.2700T>C	XP_011507363.2:p.Phe900=
XM_024449674.1:c.3792T>C	XP_024305442.1:p.Phe1264=