Canonical Allele Identifier: CA413704793

Gene: ATRX

Linked Data

• dbSNP Id: rs2148344131
• MyVariant Identifiers: chrX:g.76889188G>A (hg19) ; chrX:g.77633700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633700G>A , CM000685.2:g.77633700G>A	GRCh38
NC_000023.10:g.76889188G>A , CM000685.1:g.76889188G>A	GRCh37
NC_000023.9:g.76775844G>A	NCBI36
NG_008838.2:g.157522C>T
NG_008838.3:g.157570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4822C>T MANE Select	ENSP00000362441.4:p.Leu1608Phe
ENST00000675732.1:c.-81C>T	ENSP00000502598.1:n.-81C>T
ENST00000675908.1:n.557C>T
ENST00000373344.9:c.4822C>T	ENSP00000362441.4:p.Leu1608Phe
ENST00000395603.7:c.4708C>T	ENSP00000378967.3:p.Leu1570Phe
ENST00000480283.5:c.*4450C>T	ENSP00000480196.1:n.*4450C>T
ENST00000623242.3:c.559C>T
ENST00000624403.1:n.166C>T
NM_000489.4:c.4822C>T	NP_000480.3:p.Leu1608Phe
NM_138270.3:c.4708C>T	NP_612114.2:p.Leu1570Phe
XM_005262153.3:c.4819C>T	XP_005262210.2:p.Leu1607Phe
XM_005262154.3:c.4735C>T	XP_005262211.2:p.Leu1579Phe
XM_005262155.3:c.4705C>T	XP_005262212.2:p.Leu1569Phe
XM_005262156.3:c.4657C>T	XP_005262213.2:p.Leu1553Phe
XM_005262157.3:c.4618C>T	XP_005262214.2:p.Leu1540Phe
XM_006724666.2:c.4705C>T	XP_006724729.1:p.Leu1569Phe
XM_006724667.2:c.4543C>T	XP_006724730.1:p.Leu1515Phe
XM_006724668.2:c.4822C>T	XP_006724731.1:p.Leu1608Phe
XR_938400.1:n.5090C>T
NM_000489.5:c.4822C>T	NP_000480.3:p.Leu1608Phe
XM_005262153.5:c.4819C>T	XP_005262210.2:p.Leu1607Phe
XM_005262154.5:c.4735C>T	XP_005262211.2:p.Leu1579Phe
XM_005262155.4:c.4705C>T	XP_005262212.2:p.Leu1569Phe
XM_005262156.4:c.4657C>T	XP_005262213.2:p.Leu1553Phe
XM_005262157.5:c.4618C>T	XP_005262214.2:p.Leu1540Phe
XM_006724666.4:c.4705C>T	XP_006724729.1:p.Leu1569Phe
XM_006724667.3:c.4543C>T	XP_006724730.1:p.Leu1515Phe
XM_006724668.3:c.4822C>T	XP_006724731.1:p.Leu1608Phe
XM_017029601.2:c.4732C>T	XP_016885090.1:p.Leu1578Phe
XM_017029602.1:c.4702C>T	XP_016885091.1:p.Leu1568Phe
XM_017029603.1:c.4654C>T	XP_016885092.1:p.Leu1552Phe
XM_017029604.2:c.4621C>T	XP_016885093.1:p.Leu1541Phe
XM_017029605.1:c.4618C>T	XP_016885094.1:p.Leu1540Phe
XM_017029606.2:c.4591C>T	XP_016885095.1:p.Leu1531Phe
XM_017029607.2:c.4588C>T	XP_016885096.1:p.Leu1530Phe
XM_017029608.2:c.4540C>T	XP_016885097.1:p.Leu1514Phe
XM_017029609.1:c.4504C>T	XP_016885098.1:p.Leu1502Phe
XM_017029610.1:c.4501C>T	XP_016885099.1:p.Leu1501Phe
XM_017029611.1:c.4456C>T	XP_016885100.1:p.Leu1486Phe
XR_001755700.2:n.5047C>T
NM_138270.4:c.4708C>T	NP_612114.2:p.Leu1570Phe
NM_000489.6:c.4822C>T MANE Select	NP_000480.3:p.Leu1608Phe
NM_138270.5:c.4708C>T	NP_612114.2:p.Leu1570Phe