Canonical Allele Identifier: CA413704196

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648637
• MyVariant Identifiers: chrX:g.76763955G>C (hg19) ; chrX:g.77508477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508477G>C , CM000685.2:g.77508477G>C	GRCh38
NC_000023.10:g.76763955G>C , CM000685.1:g.76763955G>C	GRCh37
NC_000023.9:g.76650611G>C	NCBI36
NG_008838.2:g.282745C>G
NG_008838.3:g.282793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7353C>G MANE Select	ENSP00000362441.4:p.Tyr2451Ter
ENST00000675732.1:c.2451C>G	ENSP00000502598.1:p.Tyr817Ter
ENST00000373344.9:c.7353C>G	ENSP00000362441.4:p.Tyr2451Ter
ENST00000395603.7:c.7239C>G	ENSP00000378967.3:p.Tyr2413Ter
ENST00000480283.5:c.*6981C>G	ENSP00000480196.1:n.*6981C>G
ENST00000623706.3:n.5673C>G
NM_000489.4:c.7353C>G	NP_000480.3:p.Tyr2451Ter
NM_138270.3:c.7239C>G	NP_612114.2:p.Tyr2413Ter
XM_005262153.3:c.7350C>G	XP_005262210.2:p.Tyr2450Ter
XM_005262154.3:c.7266C>G	XP_005262211.2:p.Tyr2422Ter
XM_005262155.3:c.7236C>G	XP_005262212.2:p.Tyr2412Ter
XM_005262156.3:c.7188C>G	XP_005262213.2:p.Tyr2396Ter
XM_005262157.3:c.7149C>G	XP_005262214.2:p.Tyr2383Ter
XM_006724666.2:c.7236C>G	XP_006724729.1:p.Tyr2412Ter
XM_006724667.2:c.7074C>G	XP_006724730.1:p.Tyr2358Ter
XR_938400.1:n.8945C>G
NM_000489.5:c.7353C>G	NP_000480.3:p.Tyr2451Ter
XM_005262153.5:c.7350C>G	XP_005262210.2:p.Tyr2450Ter
XM_005262154.5:c.7266C>G	XP_005262211.2:p.Tyr2422Ter
XM_005262155.4:c.7236C>G	XP_005262212.2:p.Tyr2412Ter
XM_005262156.4:c.7188C>G	XP_005262213.2:p.Tyr2396Ter
XM_005262157.5:c.7149C>G	XP_005262214.2:p.Tyr2383Ter
XM_006724666.4:c.7236C>G	XP_006724729.1:p.Tyr2412Ter
XM_006724667.3:c.7074C>G	XP_006724730.1:p.Tyr2358Ter
XM_017029601.2:c.7263C>G	XP_016885090.1:p.Tyr2421Ter
XM_017029602.1:c.7233C>G	XP_016885091.1:p.Tyr2411Ter
XM_017029603.1:c.7185C>G	XP_016885092.1:p.Tyr2395Ter
XM_017029604.2:c.7152C>G	XP_016885093.1:p.Tyr2384Ter
XM_017029605.1:c.7149C>G	XP_016885094.1:p.Tyr2383Ter
XM_017029606.2:c.7122C>G	XP_016885095.1:p.Tyr2374Ter
XM_017029607.2:c.7119C>G	XP_016885096.1:p.Tyr2373Ter
XM_017029608.2:c.7071C>G	XP_016885097.1:p.Tyr2357Ter
XM_017029609.1:c.7035C>G	XP_016885098.1:p.Tyr2345Ter
XM_017029610.1:c.7032C>G	XP_016885099.1:p.Tyr2344Ter
XM_017029611.1:c.6987C>G	XP_016885100.1:p.Tyr2329Ter
XR_001755700.2:n.7652C>G
NM_138270.4:c.7239C>G	NP_612114.2:p.Tyr2413Ter
NM_000489.6:c.7353C>G MANE Select	NP_000480.3:p.Tyr2451Ter
NM_138270.5:c.7239C>G	NP_612114.2:p.Tyr2413Ter