Canonical Allele Identifier: CA413708594

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438914
• MyVariant Identifiers: chrX:g.76907771C>G (hg19) ; chrX:g.77652281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652281C>G , CM000685.2:g.77652281C>G	GRCh38
NC_000023.10:g.76907771C>G , CM000685.1:g.76907771C>G	GRCh37
NC_000023.9:g.76794427C>G	NCBI36
NG_008838.2:g.138941G>C
NG_008838.3:g.138989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4390G>C MANE Select	ENSP00000362441.4:p.Glu1464Gln
ENST00000373344.9:c.4390G>C	ENSP00000362441.4:p.Glu1464Gln
ENST00000395603.7:c.4276G>C	ENSP00000378967.3:p.Glu1426Gln
ENST00000480283.5:c.*4018G>C	ENSP00000480196.1:n.*4018G>C
NM_000489.4:c.4390G>C	NP_000480.3:p.Glu1464Gln
NM_138270.3:c.4276G>C	NP_612114.2:p.Glu1426Gln
XM_005262153.3:c.4387G>C	XP_005262210.2:p.Glu1463Gln
XM_005262154.3:c.4303G>C	XP_005262211.2:p.Glu1435Gln
XM_005262155.3:c.4273G>C	XP_005262212.2:p.Glu1425Gln
XM_005262156.3:c.4225G>C	XP_005262213.2:p.Glu1409Gln
XM_005262157.3:c.4186G>C	XP_005262214.2:p.Glu1396Gln
XM_006724666.2:c.4273G>C	XP_006724729.1:p.Glu1425Gln
XM_006724667.2:c.4111G>C	XP_006724730.1:p.Glu1371Gln
XM_006724668.2:c.4390G>C	XP_006724731.1:p.Glu1464Gln
XR_938400.1:n.4658G>C
NM_000489.5:c.4390G>C	NP_000480.3:p.Glu1464Gln
XM_005262153.5:c.4387G>C	XP_005262210.2:p.Glu1463Gln
XM_005262154.5:c.4303G>C	XP_005262211.2:p.Glu1435Gln
XM_005262155.4:c.4273G>C	XP_005262212.2:p.Glu1425Gln
XM_005262156.4:c.4225G>C	XP_005262213.2:p.Glu1409Gln
XM_005262157.5:c.4186G>C	XP_005262214.2:p.Glu1396Gln
XM_006724666.4:c.4273G>C	XP_006724729.1:p.Glu1425Gln
XM_006724667.3:c.4111G>C	XP_006724730.1:p.Glu1371Gln
XM_006724668.3:c.4390G>C	XP_006724731.1:p.Glu1464Gln
XM_017029601.2:c.4300G>C	XP_016885090.1:p.Glu1434Gln
XM_017029602.1:c.4270G>C	XP_016885091.1:p.Glu1424Gln
XM_017029603.1:c.4222G>C	XP_016885092.1:p.Glu1408Gln
XM_017029604.2:c.4189G>C	XP_016885093.1:p.Glu1397Gln
XM_017029605.1:c.4186G>C	XP_016885094.1:p.Glu1396Gln
XM_017029606.2:c.4159G>C	XP_016885095.1:p.Glu1387Gln
XM_017029607.2:c.4156G>C	XP_016885096.1:p.Glu1386Gln
XM_017029608.2:c.4108G>C	XP_016885097.1:p.Glu1370Gln
XM_017029609.1:c.4072G>C	XP_016885098.1:p.Glu1358Gln
XM_017029610.1:c.4069G>C	XP_016885099.1:p.Glu1357Gln
XM_017029611.1:c.4024G>C	XP_016885100.1:p.Glu1342Gln
XR_001755700.2:n.4615G>C
NM_138270.4:c.4276G>C	NP_612114.2:p.Glu1426Gln
NM_000489.6:c.4390G>C MANE Select	NP_000480.3:p.Glu1464Gln
NM_138270.5:c.4276G>C	NP_612114.2:p.Glu1426Gln