Canonical Allele Identifier: CA413704605

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650478
• MyVariant Identifiers: chrX:g.76764005G>A (hg19) ; chrX:g.77508527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508527G>A , CM000685.2:g.77508527G>A	GRCh38
NC_000023.10:g.76764005G>A , CM000685.1:g.76764005G>A	GRCh37
NC_000023.9:g.76650661G>A	NCBI36
NG_008838.2:g.282695C>T
NG_008838.3:g.282743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7303C>T MANE Select	ENSP00000362441.4:p.His2435Tyr
ENST00000675732.1:c.2401C>T	ENSP00000502598.1:p.His801Tyr
ENST00000373344.9:c.7303C>T	ENSP00000362441.4:p.His2435Tyr
ENST00000395603.7:c.7189C>T	ENSP00000378967.3:p.His2397Tyr
ENST00000480283.5:c.*6931C>T	ENSP00000480196.1:n.*6931C>T
ENST00000623706.3:n.5623C>T
ENST00000624766.1:n.534C>T
NM_000489.4:c.7303C>T	NP_000480.3:p.His2435Tyr
NM_138270.3:c.7189C>T	NP_612114.2:p.His2397Tyr
XM_005262153.3:c.7300C>T	XP_005262210.2:p.His2434Tyr
XM_005262154.3:c.7216C>T	XP_005262211.2:p.His2406Tyr
XM_005262155.3:c.7186C>T	XP_005262212.2:p.His2396Tyr
XM_005262156.3:c.7138C>T	XP_005262213.2:p.His2380Tyr
XM_005262157.3:c.7099C>T	XP_005262214.2:p.His2367Tyr
XM_006724666.2:c.7186C>T	XP_006724729.1:p.His2396Tyr
XM_006724667.2:c.7024C>T	XP_006724730.1:p.His2342Tyr
XR_938400.1:n.8895C>T
NM_000489.5:c.7303C>T	NP_000480.3:p.His2435Tyr
XM_005262153.5:c.7300C>T	XP_005262210.2:p.His2434Tyr
XM_005262154.5:c.7216C>T	XP_005262211.2:p.His2406Tyr
XM_005262155.4:c.7186C>T	XP_005262212.2:p.His2396Tyr
XM_005262156.4:c.7138C>T	XP_005262213.2:p.His2380Tyr
XM_005262157.5:c.7099C>T	XP_005262214.2:p.His2367Tyr
XM_006724666.4:c.7186C>T	XP_006724729.1:p.His2396Tyr
XM_006724667.3:c.7024C>T	XP_006724730.1:p.His2342Tyr
XM_017029601.2:c.7213C>T	XP_016885090.1:p.His2405Tyr
XM_017029602.1:c.7183C>T	XP_016885091.1:p.His2395Tyr
XM_017029603.1:c.7135C>T	XP_016885092.1:p.His2379Tyr
XM_017029604.2:c.7102C>T	XP_016885093.1:p.His2368Tyr
XM_017029605.1:c.7099C>T	XP_016885094.1:p.His2367Tyr
XM_017029606.2:c.7072C>T	XP_016885095.1:p.His2358Tyr
XM_017029607.2:c.7069C>T	XP_016885096.1:p.His2357Tyr
XM_017029608.2:c.7021C>T	XP_016885097.1:p.His2341Tyr
XM_017029609.1:c.6985C>T	XP_016885098.1:p.His2329Tyr
XM_017029610.1:c.6982C>T	XP_016885099.1:p.His2328Tyr
XM_017029611.1:c.6937C>T	XP_016885100.1:p.His2313Tyr
XR_001755700.2:n.7602C>T
NM_138270.4:c.7189C>T	NP_612114.2:p.His2397Tyr
NM_000489.6:c.7303C>T MANE Select	NP_000480.3:p.His2435Tyr
NM_138270.5:c.7189C>T	NP_612114.2:p.His2397Tyr