Canonical Allele Identifier: CA413709016

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1327324
• ClinVar RCV Id: RCV001787604
• dbSNP Id: rs2148440711
• MyVariant Identifiers: chrX:g.76907840T>G (hg19) ; chrX:g.77652350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652350T>G , CM000685.2:g.77652350T>G	GRCh38
NC_000023.10:g.76907840T>G , CM000685.1:g.76907840T>G	GRCh37
NC_000023.9:g.76794496T>G	NCBI36
NG_008838.2:g.138872A>C
NG_008838.3:g.138920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4321A>C MANE Select	ENSP00000362441.4:p.Asn1441His
ENST00000373344.9:c.4321A>C	ENSP00000362441.4:p.Asn1441His
ENST00000395603.7:c.4207A>C	ENSP00000378967.3:p.Asn1403His
ENST00000480283.5:c.*3949A>C	ENSP00000480196.1:n.*3949A>C
NM_000489.4:c.4321A>C	NP_000480.3:p.Asn1441His
NM_138270.3:c.4207A>C	NP_612114.2:p.Asn1403His
XM_005262153.3:c.4318A>C	XP_005262210.2:p.Asn1440His
XM_005262154.3:c.4234A>C	XP_005262211.2:p.Asn1412His
XM_005262155.3:c.4204A>C	XP_005262212.2:p.Asn1402His
XM_005262156.3:c.4156A>C	XP_005262213.2:p.Asn1386His
XM_005262157.3:c.4117A>C	XP_005262214.2:p.Asn1373His
XM_006724666.2:c.4204A>C	XP_006724729.1:p.Asn1402His
XM_006724667.2:c.4042A>C	XP_006724730.1:p.Asn1348His
XM_006724668.2:c.4321A>C	XP_006724731.1:p.Asn1441His
XR_938400.1:n.4589A>C
NM_000489.5:c.4321A>C	NP_000480.3:p.Asn1441His
XM_005262153.5:c.4318A>C	XP_005262210.2:p.Asn1440His
XM_005262154.5:c.4234A>C	XP_005262211.2:p.Asn1412His
XM_005262155.4:c.4204A>C	XP_005262212.2:p.Asn1402His
XM_005262156.4:c.4156A>C	XP_005262213.2:p.Asn1386His
XM_005262157.5:c.4117A>C	XP_005262214.2:p.Asn1373His
XM_006724666.4:c.4204A>C	XP_006724729.1:p.Asn1402His
XM_006724667.3:c.4042A>C	XP_006724730.1:p.Asn1348His
XM_006724668.3:c.4321A>C	XP_006724731.1:p.Asn1441His
XM_017029601.2:c.4231A>C	XP_016885090.1:p.Asn1411His
XM_017029602.1:c.4201A>C	XP_016885091.1:p.Asn1401His
XM_017029603.1:c.4153A>C	XP_016885092.1:p.Asn1385His
XM_017029604.2:c.4120A>C	XP_016885093.1:p.Asn1374His
XM_017029605.1:c.4117A>C	XP_016885094.1:p.Asn1373His
XM_017029606.2:c.4090A>C	XP_016885095.1:p.Asn1364His
XM_017029607.2:c.4087A>C	XP_016885096.1:p.Asn1363His
XM_017029608.2:c.4039A>C	XP_016885097.1:p.Asn1347His
XM_017029609.1:c.4003A>C	XP_016885098.1:p.Asn1335His
XM_017029610.1:c.4000A>C	XP_016885099.1:p.Asn1334His
XM_017029611.1:c.3955A>C	XP_016885100.1:p.Asn1319His
XR_001755700.2:n.4546A>C
NM_138270.4:c.4207A>C	NP_612114.2:p.Asn1403His
NM_000489.6:c.4321A>C MANE Select	NP_000480.3:p.Asn1441His
NM_138270.5:c.4207A>C	NP_612114.2:p.Asn1403His