Canonical Allele Identifier: CA413709005

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907837A>G (hg19) ; chrX:g.77652347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652347A>G , CM000685.2:g.77652347A>G	GRCh38
NC_000023.10:g.76907837A>G , CM000685.1:g.76907837A>G	GRCh37
NC_000023.9:g.76794493A>G	NCBI36
NG_008838.2:g.138875T>C
NG_008838.3:g.138923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4324T>C MANE Select	ENSP00000362441.4:p.Ser1442Pro
ENST00000373344.9:c.4324T>C	ENSP00000362441.4:p.Ser1442Pro
ENST00000395603.7:c.4210T>C	ENSP00000378967.3:p.Ser1404Pro
ENST00000480283.5:c.*3952T>C	ENSP00000480196.1:n.*3952T>C
NM_000489.4:c.4324T>C	NP_000480.3:p.Ser1442Pro
NM_138270.3:c.4210T>C	NP_612114.2:p.Ser1404Pro
XM_005262153.3:c.4321T>C	XP_005262210.2:p.Ser1441Pro
XM_005262154.3:c.4237T>C	XP_005262211.2:p.Ser1413Pro
XM_005262155.3:c.4207T>C	XP_005262212.2:p.Ser1403Pro
XM_005262156.3:c.4159T>C	XP_005262213.2:p.Ser1387Pro
XM_005262157.3:c.4120T>C	XP_005262214.2:p.Ser1374Pro
XM_006724666.2:c.4207T>C	XP_006724729.1:p.Ser1403Pro
XM_006724667.2:c.4045T>C	XP_006724730.1:p.Ser1349Pro
XM_006724668.2:c.4324T>C	XP_006724731.1:p.Ser1442Pro
XR_938400.1:n.4592T>C
NM_000489.5:c.4324T>C	NP_000480.3:p.Ser1442Pro
XM_005262153.5:c.4321T>C	XP_005262210.2:p.Ser1441Pro
XM_005262154.5:c.4237T>C	XP_005262211.2:p.Ser1413Pro
XM_005262155.4:c.4207T>C	XP_005262212.2:p.Ser1403Pro
XM_005262156.4:c.4159T>C	XP_005262213.2:p.Ser1387Pro
XM_005262157.5:c.4120T>C	XP_005262214.2:p.Ser1374Pro
XM_006724666.4:c.4207T>C	XP_006724729.1:p.Ser1403Pro
XM_006724667.3:c.4045T>C	XP_006724730.1:p.Ser1349Pro
XM_006724668.3:c.4324T>C	XP_006724731.1:p.Ser1442Pro
XM_017029601.2:c.4234T>C	XP_016885090.1:p.Ser1412Pro
XM_017029602.1:c.4204T>C	XP_016885091.1:p.Ser1402Pro
XM_017029603.1:c.4156T>C	XP_016885092.1:p.Ser1386Pro
XM_017029604.2:c.4123T>C	XP_016885093.1:p.Ser1375Pro
XM_017029605.1:c.4120T>C	XP_016885094.1:p.Ser1374Pro
XM_017029606.2:c.4093T>C	XP_016885095.1:p.Ser1365Pro
XM_017029607.2:c.4090T>C	XP_016885096.1:p.Ser1364Pro
XM_017029608.2:c.4042T>C	XP_016885097.1:p.Ser1348Pro
XM_017029609.1:c.4006T>C	XP_016885098.1:p.Ser1336Pro
XM_017029610.1:c.4003T>C	XP_016885099.1:p.Ser1335Pro
XM_017029611.1:c.3958T>C	XP_016885100.1:p.Ser1320Pro
XR_001755700.2:n.4549T>C
NM_138270.4:c.4210T>C	NP_612114.2:p.Ser1404Pro
NM_000489.6:c.4324T>C MANE Select	NP_000480.3:p.Ser1442Pro
NM_138270.5:c.4210T>C	NP_612114.2:p.Ser1404Pro