Canonical Allele Identifier: CA413701241

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829801G>T (hg19) ; chrX:g.77574336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574336G>T , CM000685.2:g.77574336G>T	GRCh38
NC_000023.10:g.76829801G>T , CM000685.1:g.76829801G>T	GRCh37
NC_000023.9:g.76716457G>T	NCBI36
NG_008838.2:g.216886C>A
NG_008838.3:g.216934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6240C>A MANE Select	ENSP00000362441.4:p.Asn2080Lys
ENST00000636152.1:n.75C>A
ENST00000675732.1:c.1338C>A	ENSP00000502598.1:p.Asn446Lys
ENST00000373344.9:c.6240C>A	ENSP00000362441.4:p.Asn2080Lys
ENST00000395603.7:c.6126C>A	ENSP00000378967.3:p.Asn2042Lys
ENST00000480283.5:c.*5868C>A	ENSP00000480196.1:n.*5868C>A
ENST00000623316.1:c.724C>A
ENST00000623706.3:n.3310C>A
NM_000489.4:c.6240C>A	NP_000480.3:p.Asn2080Lys
NM_138270.3:c.6126C>A	NP_612114.2:p.Asn2042Lys
XM_005262153.3:c.6237C>A	XP_005262210.2:p.Asn2079Lys
XM_005262154.3:c.6153C>A	XP_005262211.2:p.Asn2051Lys
XM_005262155.3:c.6123C>A	XP_005262212.2:p.Asn2041Lys
XM_005262156.3:c.6075C>A	XP_005262213.2:p.Asn2025Lys
XM_005262157.3:c.6036C>A	XP_005262214.2:p.Asn2012Lys
XM_006724666.2:c.6123C>A	XP_006724729.1:p.Asn2041Lys
XM_006724667.2:c.5961C>A	XP_006724730.1:p.Asn1987Lys
XR_938400.1:n.6582C>A
NM_000489.5:c.6240C>A	NP_000480.3:p.Asn2080Lys
XM_005262153.5:c.6237C>A	XP_005262210.2:p.Asn2079Lys
XM_005262154.5:c.6153C>A	XP_005262211.2:p.Asn2051Lys
XM_005262155.4:c.6123C>A	XP_005262212.2:p.Asn2041Lys
XM_005262156.4:c.6075C>A	XP_005262213.2:p.Asn2025Lys
XM_005262157.5:c.6036C>A	XP_005262214.2:p.Asn2012Lys
XM_006724666.4:c.6123C>A	XP_006724729.1:p.Asn2041Lys
XM_006724667.3:c.5961C>A	XP_006724730.1:p.Asn1987Lys
XM_017029601.2:c.6150C>A	XP_016885090.1:p.Asn2050Lys
XM_017029602.1:c.6120C>A	XP_016885091.1:p.Asn2040Lys
XM_017029603.1:c.6072C>A	XP_016885092.1:p.Asn2024Lys
XM_017029604.2:c.6039C>A	XP_016885093.1:p.Asn2013Lys
XM_017029605.1:c.6036C>A	XP_016885094.1:p.Asn2012Lys
XM_017029606.2:c.6009C>A	XP_016885095.1:p.Asn2003Lys
XM_017029607.2:c.6006C>A	XP_016885096.1:p.Asn2002Lys
XM_017029608.2:c.5958C>A	XP_016885097.1:p.Asn1986Lys
XM_017029609.1:c.5922C>A	XP_016885098.1:p.Asn1974Lys
XM_017029610.1:c.5919C>A	XP_016885099.1:p.Asn1973Lys
XM_017029611.1:c.5874C>A	XP_016885100.1:p.Asn1958Lys
XR_001755700.2:n.6539C>A
NM_138270.4:c.6126C>A	NP_612114.2:p.Asn2042Lys
NM_000489.6:c.6240C>A MANE Select	NP_000480.3:p.Asn2080Lys
NM_138270.5:c.6126C>A	NP_612114.2:p.Asn2042Lys