Canonical Allele Identifier: CA413707847

Gene: ATRX

Linked Data

• dbSNP Id: rs2148435987
• MyVariant Identifiers: chrX:g.76907641A>G (hg19) ; chrX:g.77652151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652151A>G , CM000685.2:g.77652151A>G	GRCh38
NC_000023.10:g.76907641A>G , CM000685.1:g.76907641A>G	GRCh37
NC_000023.9:g.76794297A>G	NCBI36
NG_008838.2:g.139071T>C
NG_008838.3:g.139119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4520T>C MANE Select	ENSP00000362441.4:p.Ile1507Thr
ENST00000373344.9:c.4520T>C	ENSP00000362441.4:p.Ile1507Thr
ENST00000395603.7:c.4406T>C	ENSP00000378967.3:p.Ile1469Thr
ENST00000480283.5:c.*4148T>C	ENSP00000480196.1:n.*4148T>C
ENST00000623242.3:c.126T>C
NM_000489.4:c.4520T>C	NP_000480.3:p.Ile1507Thr
NM_138270.3:c.4406T>C	NP_612114.2:p.Ile1469Thr
XM_005262153.3:c.4517T>C	XP_005262210.2:p.Ile1506Thr
XM_005262154.3:c.4433T>C	XP_005262211.2:p.Ile1478Thr
XM_005262155.3:c.4403T>C	XP_005262212.2:p.Ile1468Thr
XM_005262156.3:c.4355T>C	XP_005262213.2:p.Ile1452Thr
XM_005262157.3:c.4316T>C	XP_005262214.2:p.Ile1439Thr
XM_006724666.2:c.4403T>C	XP_006724729.1:p.Ile1468Thr
XM_006724667.2:c.4241T>C	XP_006724730.1:p.Ile1414Thr
XM_006724668.2:c.4520T>C	XP_006724731.1:p.Ile1507Thr
XR_938400.1:n.4788T>C
NM_000489.5:c.4520T>C	NP_000480.3:p.Ile1507Thr
XM_005262153.5:c.4517T>C	XP_005262210.2:p.Ile1506Thr
XM_005262154.5:c.4433T>C	XP_005262211.2:p.Ile1478Thr
XM_005262155.4:c.4403T>C	XP_005262212.2:p.Ile1468Thr
XM_005262156.4:c.4355T>C	XP_005262213.2:p.Ile1452Thr
XM_005262157.5:c.4316T>C	XP_005262214.2:p.Ile1439Thr
XM_006724666.4:c.4403T>C	XP_006724729.1:p.Ile1468Thr
XM_006724667.3:c.4241T>C	XP_006724730.1:p.Ile1414Thr
XM_006724668.3:c.4520T>C	XP_006724731.1:p.Ile1507Thr
XM_017029601.2:c.4430T>C	XP_016885090.1:p.Ile1477Thr
XM_017029602.1:c.4400T>C	XP_016885091.1:p.Ile1467Thr
XM_017029603.1:c.4352T>C	XP_016885092.1:p.Ile1451Thr
XM_017029604.2:c.4319T>C	XP_016885093.1:p.Ile1440Thr
XM_017029605.1:c.4316T>C	XP_016885094.1:p.Ile1439Thr
XM_017029606.2:c.4289T>C	XP_016885095.1:p.Ile1430Thr
XM_017029607.2:c.4286T>C	XP_016885096.1:p.Ile1429Thr
XM_017029608.2:c.4238T>C	XP_016885097.1:p.Ile1413Thr
XM_017029609.1:c.4202T>C	XP_016885098.1:p.Ile1401Thr
XM_017029610.1:c.4199T>C	XP_016885099.1:p.Ile1400Thr
XM_017029611.1:c.4154T>C	XP_016885100.1:p.Ile1385Thr
XR_001755700.2:n.4745T>C
NM_138270.4:c.4406T>C	NP_612114.2:p.Ile1469Thr
NM_000489.6:c.4520T>C MANE Select	NP_000480.3:p.Ile1507Thr
NM_138270.5:c.4406T>C	NP_612114.2:p.Ile1469Thr