Canonical Allele Identifier: CA413704291

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763968T>A (hg19) ; chrX:g.77508490T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7340A>T MANE Select	ENSP00000362441.4:p.Asn2447Ile
ENST00000675732.1:c.2438A>T	ENSP00000502598.1:p.Asn813Ile
ENST00000373344.9:c.7340A>T	ENSP00000362441.4:p.Asn2447Ile
ENST00000395603.7:c.7226A>T	ENSP00000378967.3:p.Asn2409Ile
ENST00000480283.5:c.*6968A>T	ENSP00000480196.1:n.*6968A>T
ENST00000623706.3:n.5660A>T
ENST00000624766.1:n.571A>T
NM_000489.4:c.7340A>T	NP_000480.3:p.Asn2447Ile
NM_138270.3:c.7226A>T	NP_612114.2:p.Asn2409Ile
XM_005262153.3:c.7337A>T	XP_005262210.2:p.Asn2446Ile
XM_005262154.3:c.7253A>T	XP_005262211.2:p.Asn2418Ile
XM_005262155.3:c.7223A>T	XP_005262212.2:p.Asn2408Ile
XM_005262156.3:c.7175A>T	XP_005262213.2:p.Asn2392Ile
XM_005262157.3:c.7136A>T	XP_005262214.2:p.Asn2379Ile
XM_006724666.2:c.7223A>T	XP_006724729.1:p.Asn2408Ile
XM_006724667.2:c.7061A>T	XP_006724730.1:p.Asn2354Ile
XR_938400.1:n.8932A>T
NM_000489.5:c.7340A>T	NP_000480.3:p.Asn2447Ile
XM_005262153.5:c.7337A>T	XP_005262210.2:p.Asn2446Ile
XM_005262154.5:c.7253A>T	XP_005262211.2:p.Asn2418Ile
XM_005262155.4:c.7223A>T	XP_005262212.2:p.Asn2408Ile
XM_005262156.4:c.7175A>T	XP_005262213.2:p.Asn2392Ile
XM_005262157.5:c.7136A>T	XP_005262214.2:p.Asn2379Ile
XM_006724666.4:c.7223A>T	XP_006724729.1:p.Asn2408Ile
XM_006724667.3:c.7061A>T	XP_006724730.1:p.Asn2354Ile
XM_017029601.2:c.7250A>T	XP_016885090.1:p.Asn2417Ile
XM_017029602.1:c.7220A>T	XP_016885091.1:p.Asn2407Ile
XM_017029603.1:c.7172A>T	XP_016885092.1:p.Asn2391Ile
XM_017029604.2:c.7139A>T	XP_016885093.1:p.Asn2380Ile
XM_017029605.1:c.7136A>T	XP_016885094.1:p.Asn2379Ile
XM_017029606.2:c.7109A>T	XP_016885095.1:p.Asn2370Ile
XM_017029607.2:c.7106A>T	XP_016885096.1:p.Asn2369Ile
XM_017029608.2:c.7058A>T	XP_016885097.1:p.Asn2353Ile
XM_017029609.1:c.7022A>T	XP_016885098.1:p.Asn2341Ile
XM_017029610.1:c.7019A>T	XP_016885099.1:p.Asn2340Ile
XM_017029611.1:c.6974A>T	XP_016885100.1:p.Asn2325Ile
XR_001755700.2:n.7639A>T
NM_138270.4:c.7226A>T	NP_612114.2:p.Asn2409Ile
NM_000489.6:c.7340A>T MANE Select	NP_000480.3:p.Asn2447Ile
NM_138270.5:c.7226A>T	NP_612114.2:p.Asn2409Ile