Canonical Allele Identifier: CA413708222

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907704T>G (hg19) ; chrX:g.77652214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652214T>G , CM000685.2:g.77652214T>G	GRCh38
NC_000023.10:g.76907704T>G , CM000685.1:g.76907704T>G	GRCh37
NC_000023.9:g.76794360T>G	NCBI36
NG_008838.2:g.139008A>C
NG_008838.3:g.139056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4457A>C MANE Select	ENSP00000362441.4:p.Asp1486Ala
ENST00000373344.9:c.4457A>C	ENSP00000362441.4:p.Asp1486Ala
ENST00000395603.7:c.4343A>C	ENSP00000378967.3:p.Asp1448Ala
ENST00000480283.5:c.*4085A>C	ENSP00000480196.1:n.*4085A>C
ENST00000623242.3:c.63A>C
NM_000489.4:c.4457A>C	NP_000480.3:p.Asp1486Ala
NM_138270.3:c.4343A>C	NP_612114.2:p.Asp1448Ala
XM_005262153.3:c.4454A>C	XP_005262210.2:p.Asp1485Ala
XM_005262154.3:c.4370A>C	XP_005262211.2:p.Asp1457Ala
XM_005262155.3:c.4340A>C	XP_005262212.2:p.Asp1447Ala
XM_005262156.3:c.4292A>C	XP_005262213.2:p.Asp1431Ala
XM_005262157.3:c.4253A>C	XP_005262214.2:p.Asp1418Ala
XM_006724666.2:c.4340A>C	XP_006724729.1:p.Asp1447Ala
XM_006724667.2:c.4178A>C	XP_006724730.1:p.Asp1393Ala
XM_006724668.2:c.4457A>C	XP_006724731.1:p.Asp1486Ala
XR_938400.1:n.4725A>C
NM_000489.5:c.4457A>C	NP_000480.3:p.Asp1486Ala
XM_005262153.5:c.4454A>C	XP_005262210.2:p.Asp1485Ala
XM_005262154.5:c.4370A>C	XP_005262211.2:p.Asp1457Ala
XM_005262155.4:c.4340A>C	XP_005262212.2:p.Asp1447Ala
XM_005262156.4:c.4292A>C	XP_005262213.2:p.Asp1431Ala
XM_005262157.5:c.4253A>C	XP_005262214.2:p.Asp1418Ala
XM_006724666.4:c.4340A>C	XP_006724729.1:p.Asp1447Ala
XM_006724667.3:c.4178A>C	XP_006724730.1:p.Asp1393Ala
XM_006724668.3:c.4457A>C	XP_006724731.1:p.Asp1486Ala
XM_017029601.2:c.4367A>C	XP_016885090.1:p.Asp1456Ala
XM_017029602.1:c.4337A>C	XP_016885091.1:p.Asp1446Ala
XM_017029603.1:c.4289A>C	XP_016885092.1:p.Asp1430Ala
XM_017029604.2:c.4256A>C	XP_016885093.1:p.Asp1419Ala
XM_017029605.1:c.4253A>C	XP_016885094.1:p.Asp1418Ala
XM_017029606.2:c.4226A>C	XP_016885095.1:p.Asp1409Ala
XM_017029607.2:c.4223A>C	XP_016885096.1:p.Asp1408Ala
XM_017029608.2:c.4175A>C	XP_016885097.1:p.Asp1392Ala
XM_017029609.1:c.4139A>C	XP_016885098.1:p.Asp1380Ala
XM_017029610.1:c.4136A>C	XP_016885099.1:p.Asp1379Ala
XM_017029611.1:c.4091A>C	XP_016885100.1:p.Asp1364Ala
XR_001755700.2:n.4682A>C
NM_138270.4:c.4343A>C	NP_612114.2:p.Asp1448Ala
NM_000489.6:c.4457A>C MANE Select	NP_000480.3:p.Asp1486Ala
NM_138270.5:c.4343A>C	NP_612114.2:p.Asp1448Ala