Canonical Allele Identifier: CA413703569

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763866C>T (hg19) ; chrX:g.77508388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508388C>T , CM000685.2:g.77508388C>T	GRCh38
NC_000023.10:g.76763866C>T , CM000685.1:g.76763866C>T	GRCh37
NC_000023.9:g.76650522C>T	NCBI36
NG_008838.2:g.282834G>A
NG_008838.3:g.282882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7442G>A MANE Select	ENSP00000362441.4:p.Ser2481Asn
ENST00000675732.1:c.2540G>A	ENSP00000502598.1:p.Ser847Asn
ENST00000373344.9:c.7442G>A	ENSP00000362441.4:p.Ser2481Asn
ENST00000395603.7:c.7328G>A	ENSP00000378967.3:p.Ser2443Asn
ENST00000480283.5:c.*7070G>A	ENSP00000480196.1:n.*7070G>A
ENST00000623706.3:n.5762G>A
NM_000489.4:c.7442G>A	NP_000480.3:p.Ser2481Asn
NM_138270.3:c.7328G>A	NP_612114.2:p.Ser2443Asn
XM_005262153.3:c.7439G>A	XP_005262210.2:p.Ser2480Asn
XM_005262154.3:c.7355G>A	XP_005262211.2:p.Ser2452Asn
XM_005262155.3:c.7325G>A	XP_005262212.2:p.Ser2442Asn
XM_005262156.3:c.7277G>A	XP_005262213.2:p.Ser2426Asn
XM_005262157.3:c.7238G>A	XP_005262214.2:p.Ser2413Asn
XM_006724666.2:c.7325G>A	XP_006724729.1:p.Ser2442Asn
XM_006724667.2:c.7163G>A	XP_006724730.1:p.Ser2388Asn
XR_938400.1:n.9034G>A
NM_000489.5:c.7442G>A	NP_000480.3:p.Ser2481Asn
XM_005262153.5:c.7439G>A	XP_005262210.2:p.Ser2480Asn
XM_005262154.5:c.7355G>A	XP_005262211.2:p.Ser2452Asn
XM_005262155.4:c.7325G>A	XP_005262212.2:p.Ser2442Asn
XM_005262156.4:c.7277G>A	XP_005262213.2:p.Ser2426Asn
XM_005262157.5:c.7238G>A	XP_005262214.2:p.Ser2413Asn
XM_006724666.4:c.7325G>A	XP_006724729.1:p.Ser2442Asn
XM_006724667.3:c.7163G>A	XP_006724730.1:p.Ser2388Asn
XM_017029601.2:c.7352G>A	XP_016885090.1:p.Ser2451Asn
XM_017029602.1:c.7322G>A	XP_016885091.1:p.Ser2441Asn
XM_017029603.1:c.7274G>A	XP_016885092.1:p.Ser2425Asn
XM_017029604.2:c.7241G>A	XP_016885093.1:p.Ser2414Asn
XM_017029605.1:c.7238G>A	XP_016885094.1:p.Ser2413Asn
XM_017029606.2:c.7211G>A	XP_016885095.1:p.Ser2404Asn
XM_017029607.2:c.7208G>A	XP_016885096.1:p.Ser2403Asn
XM_017029608.2:c.7160G>A	XP_016885097.1:p.Ser2387Asn
XM_017029609.1:c.7124G>A	XP_016885098.1:p.Ser2375Asn
XM_017029610.1:c.7121G>A	XP_016885099.1:p.Ser2374Asn
XM_017029611.1:c.7076G>A	XP_016885100.1:p.Ser2359Asn
XR_001755700.2:n.7741G>A
NM_138270.4:c.7328G>A	NP_612114.2:p.Ser2443Asn
NM_000489.6:c.7442G>A MANE Select	NP_000480.3:p.Ser2481Asn
NM_138270.5:c.7328G>A	NP_612114.2:p.Ser2443Asn