Canonical Allele Identifier: CA413707488

Gene: ATRX

Linked Data

• dbSNP Id: rs2063208502
• MyVariant Identifiers: chrX:g.76776393C>G (hg19) ; chrX:g.77520915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520915C>G , CM000685.2:g.77520915C>G	GRCh38
NC_000023.10:g.76776393C>G , CM000685.1:g.76776393C>G	GRCh37
NC_000023.9:g.76663049C>G	NCBI36
NG_008838.2:g.270307G>C
NG_008838.3:g.270355G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7073G>C MANE Select	ENSP00000362441.4:p.Trp2358Ser
ENST00000675732.1:c.2171G>C	ENSP00000502598.1:p.Trp724Ser
ENST00000373344.9:c.7073G>C	ENSP00000362441.4:p.Trp2358Ser
ENST00000395603.7:c.6959G>C	ENSP00000378967.3:p.Trp2320Ser
ENST00000480283.5:c.*6701G>C	ENSP00000480196.1:n.*6701G>C
ENST00000623706.3:n.5393G>C
ENST00000624766.1:n.304G>C
NM_000489.4:c.7073G>C	NP_000480.3:p.Trp2358Ser
NM_138270.3:c.6959G>C	NP_612114.2:p.Trp2320Ser
XM_005262153.3:c.7070G>C	XP_005262210.2:p.Trp2357Ser
XM_005262154.3:c.6986G>C	XP_005262211.2:p.Trp2329Ser
XM_005262155.3:c.6956G>C	XP_005262212.2:p.Trp2319Ser
XM_005262156.3:c.6908G>C	XP_005262213.2:p.Trp2303Ser
XM_005262157.3:c.6869G>C	XP_005262214.2:p.Trp2290Ser
XM_006724666.2:c.6956G>C	XP_006724729.1:p.Trp2319Ser
XM_006724667.2:c.6794G>C	XP_006724730.1:p.Trp2265Ser
XR_938400.1:n.8665G>C
NM_000489.5:c.7073G>C	NP_000480.3:p.Trp2358Ser
XM_005262153.5:c.7070G>C	XP_005262210.2:p.Trp2357Ser
XM_005262154.5:c.6986G>C	XP_005262211.2:p.Trp2329Ser
XM_005262155.4:c.6956G>C	XP_005262212.2:p.Trp2319Ser
XM_005262156.4:c.6908G>C	XP_005262213.2:p.Trp2303Ser
XM_005262157.5:c.6869G>C	XP_005262214.2:p.Trp2290Ser
XM_006724666.4:c.6956G>C	XP_006724729.1:p.Trp2319Ser
XM_006724667.3:c.6794G>C	XP_006724730.1:p.Trp2265Ser
XM_017029601.2:c.6983G>C	XP_016885090.1:p.Trp2328Ser
XM_017029602.1:c.6953G>C	XP_016885091.1:p.Trp2318Ser
XM_017029603.1:c.6905G>C	XP_016885092.1:p.Trp2302Ser
XM_017029604.2:c.6872G>C	XP_016885093.1:p.Trp2291Ser
XM_017029605.1:c.6869G>C	XP_016885094.1:p.Trp2290Ser
XM_017029606.2:c.6842G>C	XP_016885095.1:p.Trp2281Ser
XM_017029607.2:c.6839G>C	XP_016885096.1:p.Trp2280Ser
XM_017029608.2:c.6791G>C	XP_016885097.1:p.Trp2264Ser
XM_017029609.1:c.6755G>C	XP_016885098.1:p.Trp2252Ser
XM_017029610.1:c.6752G>C	XP_016885099.1:p.Trp2251Ser
XM_017029611.1:c.6707G>C	XP_016885100.1:p.Trp2236Ser
XR_001755700.2:n.7372G>C
NM_138270.4:c.6959G>C	NP_612114.2:p.Trp2320Ser
NM_000489.6:c.7073G>C MANE Select	NP_000480.3:p.Trp2358Ser
NM_138270.5:c.6959G>C	NP_612114.2:p.Trp2320Ser