Canonical Allele Identifier: CA413704296

Gene: ATRX

Linked Data

• COSMIC: COSM3096921 ; COSM3096922
• MyVariant Identifiers: chrX:g.76763968T>G (hg19) ; chrX:g.77508490T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508490T>G , CM000685.2:g.77508490T>G	GRCh38
NC_000023.10:g.76763968T>G , CM000685.1:g.76763968T>G	GRCh37
NC_000023.9:g.76650624T>G	NCBI36
NG_008838.2:g.282732A>C
NG_008838.3:g.282780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7340A>C MANE Select	ENSP00000362441.4:p.Asn2447Thr
ENST00000675732.1:c.2438A>C	ENSP00000502598.1:p.Asn813Thr
ENST00000373344.9:c.7340A>C	ENSP00000362441.4:p.Asn2447Thr
ENST00000395603.7:c.7226A>C	ENSP00000378967.3:p.Asn2409Thr
ENST00000480283.5:c.*6968A>C	ENSP00000480196.1:n.*6968A>C
ENST00000623706.3:n.5660A>C
ENST00000624766.1:n.571A>C
NM_000489.4:c.7340A>C	NP_000480.3:p.Asn2447Thr
NM_138270.3:c.7226A>C	NP_612114.2:p.Asn2409Thr
XM_005262153.3:c.7337A>C	XP_005262210.2:p.Asn2446Thr
XM_005262154.3:c.7253A>C	XP_005262211.2:p.Asn2418Thr
XM_005262155.3:c.7223A>C	XP_005262212.2:p.Asn2408Thr
XM_005262156.3:c.7175A>C	XP_005262213.2:p.Asn2392Thr
XM_005262157.3:c.7136A>C	XP_005262214.2:p.Asn2379Thr
XM_006724666.2:c.7223A>C	XP_006724729.1:p.Asn2408Thr
XM_006724667.2:c.7061A>C	XP_006724730.1:p.Asn2354Thr
XR_938400.1:n.8932A>C
NM_000489.5:c.7340A>C	NP_000480.3:p.Asn2447Thr
XM_005262153.5:c.7337A>C	XP_005262210.2:p.Asn2446Thr
XM_005262154.5:c.7253A>C	XP_005262211.2:p.Asn2418Thr
XM_005262155.4:c.7223A>C	XP_005262212.2:p.Asn2408Thr
XM_005262156.4:c.7175A>C	XP_005262213.2:p.Asn2392Thr
XM_005262157.5:c.7136A>C	XP_005262214.2:p.Asn2379Thr
XM_006724666.4:c.7223A>C	XP_006724729.1:p.Asn2408Thr
XM_006724667.3:c.7061A>C	XP_006724730.1:p.Asn2354Thr
XM_017029601.2:c.7250A>C	XP_016885090.1:p.Asn2417Thr
XM_017029602.1:c.7220A>C	XP_016885091.1:p.Asn2407Thr
XM_017029603.1:c.7172A>C	XP_016885092.1:p.Asn2391Thr
XM_017029604.2:c.7139A>C	XP_016885093.1:p.Asn2380Thr
XM_017029605.1:c.7136A>C	XP_016885094.1:p.Asn2379Thr
XM_017029606.2:c.7109A>C	XP_016885095.1:p.Asn2370Thr
XM_017029607.2:c.7106A>C	XP_016885096.1:p.Asn2369Thr
XM_017029608.2:c.7058A>C	XP_016885097.1:p.Asn2353Thr
XM_017029609.1:c.7022A>C	XP_016885098.1:p.Asn2341Thr
XM_017029610.1:c.7019A>C	XP_016885099.1:p.Asn2340Thr
XM_017029611.1:c.6974A>C	XP_016885100.1:p.Asn2325Thr
XR_001755700.2:n.7639A>C
NM_138270.4:c.7226A>C	NP_612114.2:p.Asn2409Thr
NM_000489.6:c.7340A>C MANE Select	NP_000480.3:p.Asn2447Thr
NM_138270.5:c.7226A>C	NP_612114.2:p.Asn2409Thr