Canonical Allele Identifier: CA413708458

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907753A>G (hg19) ; chrX:g.77652263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652263A>G , CM000685.2:g.77652263A>G	GRCh38
NC_000023.10:g.76907753A>G , CM000685.1:g.76907753A>G	GRCh37
NC_000023.9:g.76794409A>G	NCBI36
NG_008838.2:g.138959T>C
NG_008838.3:g.139007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4408T>C MANE Select	ENSP00000362441.4:p.Ser1470Pro
ENST00000373344.9:c.4408T>C	ENSP00000362441.4:p.Ser1470Pro
ENST00000395603.7:c.4294T>C	ENSP00000378967.3:p.Ser1432Pro
ENST00000480283.5:c.*4036T>C	ENSP00000480196.1:n.*4036T>C
ENST00000623242.3:c.14T>C
NM_000489.4:c.4408T>C	NP_000480.3:p.Ser1470Pro
NM_138270.3:c.4294T>C	NP_612114.2:p.Ser1432Pro
XM_005262153.3:c.4405T>C	XP_005262210.2:p.Ser1469Pro
XM_005262154.3:c.4321T>C	XP_005262211.2:p.Ser1441Pro
XM_005262155.3:c.4291T>C	XP_005262212.2:p.Ser1431Pro
XM_005262156.3:c.4243T>C	XP_005262213.2:p.Ser1415Pro
XM_005262157.3:c.4204T>C	XP_005262214.2:p.Ser1402Pro
XM_006724666.2:c.4291T>C	XP_006724729.1:p.Ser1431Pro
XM_006724667.2:c.4129T>C	XP_006724730.1:p.Ser1377Pro
XM_006724668.2:c.4408T>C	XP_006724731.1:p.Ser1470Pro
XR_938400.1:n.4676T>C
NM_000489.5:c.4408T>C	NP_000480.3:p.Ser1470Pro
XM_005262153.5:c.4405T>C	XP_005262210.2:p.Ser1469Pro
XM_005262154.5:c.4321T>C	XP_005262211.2:p.Ser1441Pro
XM_005262155.4:c.4291T>C	XP_005262212.2:p.Ser1431Pro
XM_005262156.4:c.4243T>C	XP_005262213.2:p.Ser1415Pro
XM_005262157.5:c.4204T>C	XP_005262214.2:p.Ser1402Pro
XM_006724666.4:c.4291T>C	XP_006724729.1:p.Ser1431Pro
XM_006724667.3:c.4129T>C	XP_006724730.1:p.Ser1377Pro
XM_006724668.3:c.4408T>C	XP_006724731.1:p.Ser1470Pro
XM_017029601.2:c.4318T>C	XP_016885090.1:p.Ser1440Pro
XM_017029602.1:c.4288T>C	XP_016885091.1:p.Ser1430Pro
XM_017029603.1:c.4240T>C	XP_016885092.1:p.Ser1414Pro
XM_017029604.2:c.4207T>C	XP_016885093.1:p.Ser1403Pro
XM_017029605.1:c.4204T>C	XP_016885094.1:p.Ser1402Pro
XM_017029606.2:c.4177T>C	XP_016885095.1:p.Ser1393Pro
XM_017029607.2:c.4174T>C	XP_016885096.1:p.Ser1392Pro
XM_017029608.2:c.4126T>C	XP_016885097.1:p.Ser1376Pro
XM_017029609.1:c.4090T>C	XP_016885098.1:p.Ser1364Pro
XM_017029610.1:c.4087T>C	XP_016885099.1:p.Ser1363Pro
XM_017029611.1:c.4042T>C	XP_016885100.1:p.Ser1348Pro
XR_001755700.2:n.4633T>C
NM_138270.4:c.4294T>C	NP_612114.2:p.Ser1432Pro
NM_000489.6:c.4408T>C MANE Select	NP_000480.3:p.Ser1470Pro
NM_138270.5:c.4294T>C	NP_612114.2:p.Ser1432Pro