Canonical Allele Identifier: CA413709000

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440628
• MyVariant Identifiers: chrX:g.76907836G>C (hg19) ; chrX:g.77652346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652346G>C , CM000685.2:g.77652346G>C	GRCh38
NC_000023.10:g.76907836G>C , CM000685.1:g.76907836G>C	GRCh37
NC_000023.9:g.76794492G>C	NCBI36
NG_008838.2:g.138876C>G
NG_008838.3:g.138924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4325C>G MANE Select	ENSP00000362441.4:p.Ser1442Cys
ENST00000373344.9:c.4325C>G	ENSP00000362441.4:p.Ser1442Cys
ENST00000395603.7:c.4211C>G	ENSP00000378967.3:p.Ser1404Cys
ENST00000480283.5:c.*3953C>G	ENSP00000480196.1:n.*3953C>G
NM_000489.4:c.4325C>G	NP_000480.3:p.Ser1442Cys
NM_138270.3:c.4211C>G	NP_612114.2:p.Ser1404Cys
XM_005262153.3:c.4322C>G	XP_005262210.2:p.Ser1441Cys
XM_005262154.3:c.4238C>G	XP_005262211.2:p.Ser1413Cys
XM_005262155.3:c.4208C>G	XP_005262212.2:p.Ser1403Cys
XM_005262156.3:c.4160C>G	XP_005262213.2:p.Ser1387Cys
XM_005262157.3:c.4121C>G	XP_005262214.2:p.Ser1374Cys
XM_006724666.2:c.4208C>G	XP_006724729.1:p.Ser1403Cys
XM_006724667.2:c.4046C>G	XP_006724730.1:p.Ser1349Cys
XM_006724668.2:c.4325C>G	XP_006724731.1:p.Ser1442Cys
XR_938400.1:n.4593C>G
NM_000489.5:c.4325C>G	NP_000480.3:p.Ser1442Cys
XM_005262153.5:c.4322C>G	XP_005262210.2:p.Ser1441Cys
XM_005262154.5:c.4238C>G	XP_005262211.2:p.Ser1413Cys
XM_005262155.4:c.4208C>G	XP_005262212.2:p.Ser1403Cys
XM_005262156.4:c.4160C>G	XP_005262213.2:p.Ser1387Cys
XM_005262157.5:c.4121C>G	XP_005262214.2:p.Ser1374Cys
XM_006724666.4:c.4208C>G	XP_006724729.1:p.Ser1403Cys
XM_006724667.3:c.4046C>G	XP_006724730.1:p.Ser1349Cys
XM_006724668.3:c.4325C>G	XP_006724731.1:p.Ser1442Cys
XM_017029601.2:c.4235C>G	XP_016885090.1:p.Ser1412Cys
XM_017029602.1:c.4205C>G	XP_016885091.1:p.Ser1402Cys
XM_017029603.1:c.4157C>G	XP_016885092.1:p.Ser1386Cys
XM_017029604.2:c.4124C>G	XP_016885093.1:p.Ser1375Cys
XM_017029605.1:c.4121C>G	XP_016885094.1:p.Ser1374Cys
XM_017029606.2:c.4094C>G	XP_016885095.1:p.Ser1365Cys
XM_017029607.2:c.4091C>G	XP_016885096.1:p.Ser1364Cys
XM_017029608.2:c.4043C>G	XP_016885097.1:p.Ser1348Cys
XM_017029609.1:c.4007C>G	XP_016885098.1:p.Ser1336Cys
XM_017029610.1:c.4004C>G	XP_016885099.1:p.Ser1335Cys
XM_017029611.1:c.3959C>G	XP_016885100.1:p.Ser1320Cys
XR_001755700.2:n.4550C>G
NM_138270.4:c.4211C>G	NP_612114.2:p.Ser1404Cys
NM_000489.6:c.4325C>G MANE Select	NP_000480.3:p.Ser1442Cys
NM_138270.5:c.4211C>G	NP_612114.2:p.Ser1404Cys