Canonical Allele Identifier: CA413704014

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763928A>C (hg19) ; chrX:g.77508450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508450A>C , CM000685.2:g.77508450A>C	GRCh38
NC_000023.10:g.76763928A>C , CM000685.1:g.76763928A>C	GRCh37
NC_000023.9:g.76650584A>C	NCBI36
NG_008838.2:g.282772T>G
NG_008838.3:g.282820T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7380T>G MANE Select	ENSP00000362441.4:p.Tyr2460Ter
ENST00000675732.1:c.2478T>G	ENSP00000502598.1:p.Tyr826Ter
ENST00000373344.9:c.7380T>G	ENSP00000362441.4:p.Tyr2460Ter
ENST00000395603.7:c.7266T>G	ENSP00000378967.3:p.Tyr2422Ter
ENST00000480283.5:c.*7008T>G	ENSP00000480196.1:n.*7008T>G
ENST00000623706.3:n.5700T>G
NM_000489.4:c.7380T>G	NP_000480.3:p.Tyr2460Ter
NM_138270.3:c.7266T>G	NP_612114.2:p.Tyr2422Ter
XM_005262153.3:c.7377T>G	XP_005262210.2:p.Tyr2459Ter
XM_005262154.3:c.7293T>G	XP_005262211.2:p.Tyr2431Ter
XM_005262155.3:c.7263T>G	XP_005262212.2:p.Tyr2421Ter
XM_005262156.3:c.7215T>G	XP_005262213.2:p.Tyr2405Ter
XM_005262157.3:c.7176T>G	XP_005262214.2:p.Tyr2392Ter
XM_006724666.2:c.7263T>G	XP_006724729.1:p.Tyr2421Ter
XM_006724667.2:c.7101T>G	XP_006724730.1:p.Tyr2367Ter
XR_938400.1:n.8972T>G
NM_000489.5:c.7380T>G	NP_000480.3:p.Tyr2460Ter
XM_005262153.5:c.7377T>G	XP_005262210.2:p.Tyr2459Ter
XM_005262154.5:c.7293T>G	XP_005262211.2:p.Tyr2431Ter
XM_005262155.4:c.7263T>G	XP_005262212.2:p.Tyr2421Ter
XM_005262156.4:c.7215T>G	XP_005262213.2:p.Tyr2405Ter
XM_005262157.5:c.7176T>G	XP_005262214.2:p.Tyr2392Ter
XM_006724666.4:c.7263T>G	XP_006724729.1:p.Tyr2421Ter
XM_006724667.3:c.7101T>G	XP_006724730.1:p.Tyr2367Ter
XM_017029601.2:c.7290T>G	XP_016885090.1:p.Tyr2430Ter
XM_017029602.1:c.7260T>G	XP_016885091.1:p.Tyr2420Ter
XM_017029603.1:c.7212T>G	XP_016885092.1:p.Tyr2404Ter
XM_017029604.2:c.7179T>G	XP_016885093.1:p.Tyr2393Ter
XM_017029605.1:c.7176T>G	XP_016885094.1:p.Tyr2392Ter
XM_017029606.2:c.7149T>G	XP_016885095.1:p.Tyr2383Ter
XM_017029607.2:c.7146T>G	XP_016885096.1:p.Tyr2382Ter
XM_017029608.2:c.7098T>G	XP_016885097.1:p.Tyr2366Ter
XM_017029609.1:c.7062T>G	XP_016885098.1:p.Tyr2354Ter
XM_017029610.1:c.7059T>G	XP_016885099.1:p.Tyr2353Ter
XM_017029611.1:c.7014T>G	XP_016885100.1:p.Tyr2338Ter
XR_001755700.2:n.7679T>G
NM_138270.4:c.7266T>G	NP_612114.2:p.Tyr2422Ter
NM_000489.6:c.7380T>G MANE Select	NP_000480.3:p.Tyr2460Ter
NM_138270.5:c.7266T>G	NP_612114.2:p.Tyr2422Ter