Canonical Allele Identifier: CA413707796

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907631C>G (hg19) ; chrX:g.77652141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652141C>G , CM000685.2:g.77652141C>G	GRCh38
NC_000023.10:g.76907631C>G , CM000685.1:g.76907631C>G	GRCh37
NC_000023.9:g.76794287C>G	NCBI36
NG_008838.2:g.139081G>C
NG_008838.3:g.139129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4530G>C MANE Select	ENSP00000362441.4:p.Arg1510Ser
ENST00000373344.9:c.4530G>C	ENSP00000362441.4:p.Arg1510Ser
ENST00000395603.7:c.4416G>C	ENSP00000378967.3:p.Arg1472Ser
ENST00000460639.2:n.10G>C
ENST00000480283.5:c.*4158G>C	ENSP00000480196.1:n.*4158G>C
ENST00000623242.3:c.136G>C
NM_000489.4:c.4530G>C	NP_000480.3:p.Arg1510Ser
NM_138270.3:c.4416G>C	NP_612114.2:p.Arg1472Ser
XM_005262153.3:c.4527G>C	XP_005262210.2:p.Arg1509Ser
XM_005262154.3:c.4443G>C	XP_005262211.2:p.Arg1481Ser
XM_005262155.3:c.4413G>C	XP_005262212.2:p.Arg1471Ser
XM_005262156.3:c.4365G>C	XP_005262213.2:p.Arg1455Ser
XM_005262157.3:c.4326G>C	XP_005262214.2:p.Arg1442Ser
XM_006724666.2:c.4413G>C	XP_006724729.1:p.Arg1471Ser
XM_006724667.2:c.4251G>C	XP_006724730.1:p.Arg1417Ser
XM_006724668.2:c.4530G>C	XP_006724731.1:p.Arg1510Ser
XR_938400.1:n.4798G>C
NM_000489.5:c.4530G>C	NP_000480.3:p.Arg1510Ser
XM_005262153.5:c.4527G>C	XP_005262210.2:p.Arg1509Ser
XM_005262154.5:c.4443G>C	XP_005262211.2:p.Arg1481Ser
XM_005262155.4:c.4413G>C	XP_005262212.2:p.Arg1471Ser
XM_005262156.4:c.4365G>C	XP_005262213.2:p.Arg1455Ser
XM_005262157.5:c.4326G>C	XP_005262214.2:p.Arg1442Ser
XM_006724666.4:c.4413G>C	XP_006724729.1:p.Arg1471Ser
XM_006724667.3:c.4251G>C	XP_006724730.1:p.Arg1417Ser
XM_006724668.3:c.4530G>C	XP_006724731.1:p.Arg1510Ser
XM_017029601.2:c.4440G>C	XP_016885090.1:p.Arg1480Ser
XM_017029602.1:c.4410G>C	XP_016885091.1:p.Arg1470Ser
XM_017029603.1:c.4362G>C	XP_016885092.1:p.Arg1454Ser
XM_017029604.2:c.4329G>C	XP_016885093.1:p.Arg1443Ser
XM_017029605.1:c.4326G>C	XP_016885094.1:p.Arg1442Ser
XM_017029606.2:c.4299G>C	XP_016885095.1:p.Arg1433Ser
XM_017029607.2:c.4296G>C	XP_016885096.1:p.Arg1432Ser
XM_017029608.2:c.4248G>C	XP_016885097.1:p.Arg1416Ser
XM_017029609.1:c.4212G>C	XP_016885098.1:p.Arg1404Ser
XM_017029610.1:c.4209G>C	XP_016885099.1:p.Arg1403Ser
XM_017029611.1:c.4164G>C	XP_016885100.1:p.Arg1388Ser
XR_001755700.2:n.4755G>C
NM_138270.4:c.4416G>C	NP_612114.2:p.Arg1472Ser
NM_000489.6:c.4530G>C MANE Select	NP_000480.3:p.Arg1510Ser
NM_138270.5:c.4416G>C	NP_612114.2:p.Arg1472Ser