Canonical Allele Identifier: CA413708998

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4325C>T MANE Select	ENSP00000362441.4:p.Ser1442Phe
ENST00000373344.9:c.4325C>T	ENSP00000362441.4:p.Ser1442Phe
ENST00000395603.7:c.4211C>T	ENSP00000378967.3:p.Ser1404Phe
ENST00000480283.5:c.*3953C>T	ENSP00000480196.1:n.*3953C>T
NM_000489.4:c.4325C>T	NP_000480.3:p.Ser1442Phe
NM_138270.3:c.4211C>T	NP_612114.2:p.Ser1404Phe
XM_005262153.3:c.4322C>T	XP_005262210.2:p.Ser1441Phe
XM_005262154.3:c.4238C>T	XP_005262211.2:p.Ser1413Phe
XM_005262155.3:c.4208C>T	XP_005262212.2:p.Ser1403Phe
XM_005262156.3:c.4160C>T	XP_005262213.2:p.Ser1387Phe
XM_005262157.3:c.4121C>T	XP_005262214.2:p.Ser1374Phe
XM_006724666.2:c.4208C>T	XP_006724729.1:p.Ser1403Phe
XM_006724667.2:c.4046C>T	XP_006724730.1:p.Ser1349Phe
XM_006724668.2:c.4325C>T	XP_006724731.1:p.Ser1442Phe
XR_938400.1:n.4593C>T
NM_000489.5:c.4325C>T	NP_000480.3:p.Ser1442Phe
XM_005262153.5:c.4322C>T	XP_005262210.2:p.Ser1441Phe
XM_005262154.5:c.4238C>T	XP_005262211.2:p.Ser1413Phe
XM_005262155.4:c.4208C>T	XP_005262212.2:p.Ser1403Phe
XM_005262156.4:c.4160C>T	XP_005262213.2:p.Ser1387Phe
XM_005262157.5:c.4121C>T	XP_005262214.2:p.Ser1374Phe
XM_006724666.4:c.4208C>T	XP_006724729.1:p.Ser1403Phe
XM_006724667.3:c.4046C>T	XP_006724730.1:p.Ser1349Phe
XM_006724668.3:c.4325C>T	XP_006724731.1:p.Ser1442Phe
XM_017029601.2:c.4235C>T	XP_016885090.1:p.Ser1412Phe
XM_017029602.1:c.4205C>T	XP_016885091.1:p.Ser1402Phe
XM_017029603.1:c.4157C>T	XP_016885092.1:p.Ser1386Phe
XM_017029604.2:c.4124C>T	XP_016885093.1:p.Ser1375Phe
XM_017029605.1:c.4121C>T	XP_016885094.1:p.Ser1374Phe
XM_017029606.2:c.4094C>T	XP_016885095.1:p.Ser1365Phe
XM_017029607.2:c.4091C>T	XP_016885096.1:p.Ser1364Phe
XM_017029608.2:c.4043C>T	XP_016885097.1:p.Ser1348Phe
XM_017029609.1:c.4007C>T	XP_016885098.1:p.Ser1336Phe
XM_017029610.1:c.4004C>T	XP_016885099.1:p.Ser1335Phe
XM_017029611.1:c.3959C>T	XP_016885100.1:p.Ser1320Phe
XR_001755700.2:n.4550C>T
NM_138270.4:c.4211C>T	NP_612114.2:p.Ser1404Phe
NM_000489.6:c.4325C>T MANE Select	NP_000480.3:p.Ser1442Phe
NM_138270.5:c.4211C>T	NP_612114.2:p.Ser1404Phe