Canonical Allele Identifier: CA256025

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11725
• ClinVar RCV Id: RCV000012491
• dbSNP Id: rs122445096
• MyVariant Identifiers: chrX:g.76849172T>A (hg19) ; chrX:g.77593702T>A (hg38)
• PubMed: PMID:7697714

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77593702T>A , CM000685.2:g.77593702T>A	GRCh38
NC_000023.10:g.76849172T>A , CM000685.1:g.76849172T>A	GRCh37
NC_000023.9:g.76735828T>A	NCBI36
NG_008838.2:g.197520A>T
NG_008838.3:g.197568A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.6104A>T MANE Select	ENSP00000362441.4:p.Asp2035Val
ENST00000675732.1:c.1202A>T	ENSP00000502598.1:p.Asp401Val
ENST00000373344.9:c.6104A>T	ENSP00000362441.4:p.Asp2035Val
ENST00000395603.7:c.5990A>T	ENSP00000378967.3:p.Asp1997Val
ENST00000480283.5:c.*5732A>T	ENSP00000480196.1:n.*5732A>T
ENST00000623316.1:c.588A>T
ENST00000623706.3:n.3174A>T
NM_000489.4:c.6104A>T	NP_000480.3:p.Asp2035Val
NM_138270.3:c.5990A>T	NP_612114.2:p.Asp1997Val
XM_005262153.3:c.6101A>T	XP_005262210.2:p.Asp2034Val
XM_005262154.3:c.6017A>T	XP_005262211.2:p.Asp2006Val
XM_005262155.3:c.5987A>T	XP_005262212.2:p.Asp1996Val
XM_005262156.3:c.5939A>T	XP_005262213.2:p.Asp1980Val
XM_005262157.3:c.5900A>T	XP_005262214.2:p.Asp1967Val
XM_006724666.2:c.5987A>T	XP_006724729.1:p.Asp1996Val
XM_006724667.2:c.5825A>T	XP_006724730.1:p.Asp1942Val
XR_938400.1:n.6446A>T
NM_000489.5:c.6104A>T	NP_000480.3:p.Asp2035Val
XM_005262153.5:c.6101A>T	XP_005262210.2:p.Asp2034Val
XM_005262154.5:c.6017A>T	XP_005262211.2:p.Asp2006Val
XM_005262155.4:c.5987A>T	XP_005262212.2:p.Asp1996Val
XM_005262156.4:c.5939A>T	XP_005262213.2:p.Asp1980Val
XM_005262157.5:c.5900A>T	XP_005262214.2:p.Asp1967Val
XM_006724666.4:c.5987A>T	XP_006724729.1:p.Asp1996Val
XM_006724667.3:c.5825A>T	XP_006724730.1:p.Asp1942Val
XM_017029601.2:c.6014A>T	XP_016885090.1:p.Asp2005Val
XM_017029602.1:c.5984A>T	XP_016885091.1:p.Asp1995Val
XM_017029603.1:c.5936A>T	XP_016885092.1:p.Asp1979Val
XM_017029604.2:c.5903A>T	XP_016885093.1:p.Asp1968Val
XM_017029605.1:c.5900A>T	XP_016885094.1:p.Asp1967Val
XM_017029606.2:c.5873A>T	XP_016885095.1:p.Asp1958Val
XM_017029607.2:c.5870A>T	XP_016885096.1:p.Asp1957Val
XM_017029608.2:c.5822A>T	XP_016885097.1:p.Asp1941Val
XM_017029609.1:c.5786A>T	XP_016885098.1:p.Asp1929Val
XM_017029610.1:c.5783A>T	XP_016885099.1:p.Asp1928Val
XM_017029611.1:c.5738A>T	XP_016885100.1:p.Asp1913Val
XR_001755700.2:n.6403A>T
NM_138270.4:c.5990A>T	NP_612114.2:p.Asp1997Val
NM_000489.6:c.6104A>T MANE Select	NP_000480.3:p.Asp2035Val
NM_138270.5:c.5990A>T	NP_612114.2:p.Asp1997Val