Canonical Allele Identifier: CA413701243

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829802T>G (hg19) ; chrX:g.77574337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574337T>G , CM000685.2:g.77574337T>G	GRCh38
NC_000023.10:g.76829802T>G , CM000685.1:g.76829802T>G	GRCh37
NC_000023.9:g.76716458T>G	NCBI36
NG_008838.2:g.216885A>C
NG_008838.3:g.216933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6239A>C MANE Select	ENSP00000362441.4:p.Asn2080Thr
ENST00000636152.1:n.74A>C
ENST00000675732.1:c.1337A>C	ENSP00000502598.1:p.Asn446Thr
ENST00000373344.9:c.6239A>C	ENSP00000362441.4:p.Asn2080Thr
ENST00000395603.7:c.6125A>C	ENSP00000378967.3:p.Asn2042Thr
ENST00000480283.5:c.*5867A>C	ENSP00000480196.1:n.*5867A>C
ENST00000623316.1:c.723A>C
ENST00000623706.3:n.3309A>C
NM_000489.4:c.6239A>C	NP_000480.3:p.Asn2080Thr
NM_138270.3:c.6125A>C	NP_612114.2:p.Asn2042Thr
XM_005262153.3:c.6236A>C	XP_005262210.2:p.Asn2079Thr
XM_005262154.3:c.6152A>C	XP_005262211.2:p.Asn2051Thr
XM_005262155.3:c.6122A>C	XP_005262212.2:p.Asn2041Thr
XM_005262156.3:c.6074A>C	XP_005262213.2:p.Asn2025Thr
XM_005262157.3:c.6035A>C	XP_005262214.2:p.Asn2012Thr
XM_006724666.2:c.6122A>C	XP_006724729.1:p.Asn2041Thr
XM_006724667.2:c.5960A>C	XP_006724730.1:p.Asn1987Thr
XR_938400.1:n.6581A>C
NM_000489.5:c.6239A>C	NP_000480.3:p.Asn2080Thr
XM_005262153.5:c.6236A>C	XP_005262210.2:p.Asn2079Thr
XM_005262154.5:c.6152A>C	XP_005262211.2:p.Asn2051Thr
XM_005262155.4:c.6122A>C	XP_005262212.2:p.Asn2041Thr
XM_005262156.4:c.6074A>C	XP_005262213.2:p.Asn2025Thr
XM_005262157.5:c.6035A>C	XP_005262214.2:p.Asn2012Thr
XM_006724666.4:c.6122A>C	XP_006724729.1:p.Asn2041Thr
XM_006724667.3:c.5960A>C	XP_006724730.1:p.Asn1987Thr
XM_017029601.2:c.6149A>C	XP_016885090.1:p.Asn2050Thr
XM_017029602.1:c.6119A>C	XP_016885091.1:p.Asn2040Thr
XM_017029603.1:c.6071A>C	XP_016885092.1:p.Asn2024Thr
XM_017029604.2:c.6038A>C	XP_016885093.1:p.Asn2013Thr
XM_017029605.1:c.6035A>C	XP_016885094.1:p.Asn2012Thr
XM_017029606.2:c.6008A>C	XP_016885095.1:p.Asn2003Thr
XM_017029607.2:c.6005A>C	XP_016885096.1:p.Asn2002Thr
XM_017029608.2:c.5957A>C	XP_016885097.1:p.Asn1986Thr
XM_017029609.1:c.5921A>C	XP_016885098.1:p.Asn1974Thr
XM_017029610.1:c.5918A>C	XP_016885099.1:p.Asn1973Thr
XM_017029611.1:c.5873A>C	XP_016885100.1:p.Asn1958Thr
XR_001755700.2:n.6538A>C
NM_138270.4:c.6125A>C	NP_612114.2:p.Asn2042Thr
NM_000489.6:c.6239A>C MANE Select	NP_000480.3:p.Asn2080Thr
NM_138270.5:c.6125A>C	NP_612114.2:p.Asn2042Thr