Canonical Allele Identifier: CA517374391

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776314A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520836A>G , CM000685.2:g.77520836A>G	GRCh38
NC_000023.10:g.76776314A>G , CM000685.1:g.76776314A>G	GRCh37
NC_000023.9:g.76662970A>G	NCBI36
NG_008838.2:g.270386T>C
NG_008838.3:g.270434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7152T>C MANE Select	ENSP00000362441.4:p.Val2384=
ENST00000675732.1:c.2250T>C	ENSP00000502598.1:p.Val750=
ENST00000373344.9:c.7152T>C	ENSP00000362441.4:p.Val2384=
ENST00000395603.7:c.7038T>C	ENSP00000378967.3:p.Val2346=
ENST00000480283.5:c.*6780T>C	ENSP00000480196.1:n.*6780T>C
ENST00000623706.3:n.5472T>C
ENST00000624766.1:n.383T>C
NM_000489.4:c.7152T>C	NP_000480.3:p.Val2384=
NM_138270.3:c.7038T>C	NP_612114.2:p.Val2346=
XM_005262153.3:c.7149T>C	XP_005262210.2:p.Val2383=
XM_005262154.3:c.7065T>C	XP_005262211.2:p.Val2355=
XM_005262155.3:c.7035T>C	XP_005262212.2:p.Val2345=
XM_005262156.3:c.6987T>C	XP_005262213.2:p.Val2329=
XM_005262157.3:c.6948T>C	XP_005262214.2:p.Val2316=
XM_006724666.2:c.7035T>C	XP_006724729.1:p.Val2345=
XM_006724667.2:c.6873T>C	XP_006724730.1:p.Val2291=
XR_938400.1:n.8744T>C
NM_000489.5:c.7152T>C	NP_000480.3:p.Val2384=
XM_005262153.5:c.7149T>C	XP_005262210.2:p.Val2383=
XM_005262154.5:c.7065T>C	XP_005262211.2:p.Val2355=
XM_005262155.4:c.7035T>C	XP_005262212.2:p.Val2345=
XM_005262156.4:c.6987T>C	XP_005262213.2:p.Val2329=
XM_005262157.5:c.6948T>C	XP_005262214.2:p.Val2316=
XM_006724666.4:c.7035T>C	XP_006724729.1:p.Val2345=
XM_006724667.3:c.6873T>C	XP_006724730.1:p.Val2291=
XM_017029601.2:c.7062T>C	XP_016885090.1:p.Val2354=
XM_017029602.1:c.7032T>C	XP_016885091.1:p.Val2344=
XM_017029603.1:c.6984T>C	XP_016885092.1:p.Val2328=
XM_017029604.2:c.6951T>C	XP_016885093.1:p.Val2317=
XM_017029605.1:c.6948T>C	XP_016885094.1:p.Val2316=
XM_017029606.2:c.6921T>C	XP_016885095.1:p.Val2307=
XM_017029607.2:c.6918T>C	XP_016885096.1:p.Val2306=
XM_017029608.2:c.6870T>C	XP_016885097.1:p.Val2290=
XM_017029609.1:c.6834T>C	XP_016885098.1:p.Val2278=
XM_017029610.1:c.6831T>C	XP_016885099.1:p.Val2277=
XM_017029611.1:c.6786T>C	XP_016885100.1:p.Val2262=
XR_001755700.2:n.7451T>C
NM_138270.4:c.7038T>C	NP_612114.2:p.Val2346=
NM_000489.6:c.7152T>C MANE Select	NP_000480.3:p.Val2384=
NM_138270.5:c.7038T>C	NP_612114.2:p.Val2346=