Canonical Allele Identifier: CA413708048

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907675C>A (hg19) ; chrX:g.77652185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652185C>A , CM000685.2:g.77652185C>A	GRCh38
NC_000023.10:g.76907675C>A , CM000685.1:g.76907675C>A	GRCh37
NC_000023.9:g.76794331C>A	NCBI36
NG_008838.2:g.139037G>T
NG_008838.3:g.139085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4486G>T MANE Select	ENSP00000362441.4:p.Ala1496Ser
ENST00000373344.9:c.4486G>T	ENSP00000362441.4:p.Ala1496Ser
ENST00000395603.7:c.4372G>T	ENSP00000378967.3:p.Ala1458Ser
ENST00000480283.5:c.*4114G>T	ENSP00000480196.1:n.*4114G>T
ENST00000623242.3:c.92G>T
NM_000489.4:c.4486G>T	NP_000480.3:p.Ala1496Ser
NM_138270.3:c.4372G>T	NP_612114.2:p.Ala1458Ser
XM_005262153.3:c.4483G>T	XP_005262210.2:p.Ala1495Ser
XM_005262154.3:c.4399G>T	XP_005262211.2:p.Ala1467Ser
XM_005262155.3:c.4369G>T	XP_005262212.2:p.Ala1457Ser
XM_005262156.3:c.4321G>T	XP_005262213.2:p.Ala1441Ser
XM_005262157.3:c.4282G>T	XP_005262214.2:p.Ala1428Ser
XM_006724666.2:c.4369G>T	XP_006724729.1:p.Ala1457Ser
XM_006724667.2:c.4207G>T	XP_006724730.1:p.Ala1403Ser
XM_006724668.2:c.4486G>T	XP_006724731.1:p.Ala1496Ser
XR_938400.1:n.4754G>T
NM_000489.5:c.4486G>T	NP_000480.3:p.Ala1496Ser
XM_005262153.5:c.4483G>T	XP_005262210.2:p.Ala1495Ser
XM_005262154.5:c.4399G>T	XP_005262211.2:p.Ala1467Ser
XM_005262155.4:c.4369G>T	XP_005262212.2:p.Ala1457Ser
XM_005262156.4:c.4321G>T	XP_005262213.2:p.Ala1441Ser
XM_005262157.5:c.4282G>T	XP_005262214.2:p.Ala1428Ser
XM_006724666.4:c.4369G>T	XP_006724729.1:p.Ala1457Ser
XM_006724667.3:c.4207G>T	XP_006724730.1:p.Ala1403Ser
XM_006724668.3:c.4486G>T	XP_006724731.1:p.Ala1496Ser
XM_017029601.2:c.4396G>T	XP_016885090.1:p.Ala1466Ser
XM_017029602.1:c.4366G>T	XP_016885091.1:p.Ala1456Ser
XM_017029603.1:c.4318G>T	XP_016885092.1:p.Ala1440Ser
XM_017029604.2:c.4285G>T	XP_016885093.1:p.Ala1429Ser
XM_017029605.1:c.4282G>T	XP_016885094.1:p.Ala1428Ser
XM_017029606.2:c.4255G>T	XP_016885095.1:p.Ala1419Ser
XM_017029607.2:c.4252G>T	XP_016885096.1:p.Ala1418Ser
XM_017029608.2:c.4204G>T	XP_016885097.1:p.Ala1402Ser
XM_017029609.1:c.4168G>T	XP_016885098.1:p.Ala1390Ser
XM_017029610.1:c.4165G>T	XP_016885099.1:p.Ala1389Ser
XM_017029611.1:c.4120G>T	XP_016885100.1:p.Ala1374Ser
XR_001755700.2:n.4711G>T
NM_138270.4:c.4372G>T	NP_612114.2:p.Ala1458Ser
NM_000489.6:c.4486G>T MANE Select	NP_000480.3:p.Ala1496Ser
NM_138270.5:c.4372G>T	NP_612114.2:p.Ala1458Ser