Canonical Allele Identifier: CA413708142

Gene: ATRX

Linked Data

• COSMIC: COSM4388855 ; COSM4388856
• MyVariant Identifiers: chrX:g.76907690T>C (hg19) ; chrX:g.77652200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652200T>C , CM000685.2:g.77652200T>C	GRCh38
NC_000023.10:g.76907690T>C , CM000685.1:g.76907690T>C	GRCh37
NC_000023.9:g.76794346T>C	NCBI36
NG_008838.2:g.139022A>G
NG_008838.3:g.139070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4471A>G MANE Select	ENSP00000362441.4:p.Thr1491Ala
ENST00000373344.9:c.4471A>G	ENSP00000362441.4:p.Thr1491Ala
ENST00000395603.7:c.4357A>G	ENSP00000378967.3:p.Thr1453Ala
ENST00000480283.5:c.*4099A>G	ENSP00000480196.1:n.*4099A>G
ENST00000623242.3:c.77A>G
NM_000489.4:c.4471A>G	NP_000480.3:p.Thr1491Ala
NM_138270.3:c.4357A>G	NP_612114.2:p.Thr1453Ala
XM_005262153.3:c.4468A>G	XP_005262210.2:p.Thr1490Ala
XM_005262154.3:c.4384A>G	XP_005262211.2:p.Thr1462Ala
XM_005262155.3:c.4354A>G	XP_005262212.2:p.Thr1452Ala
XM_005262156.3:c.4306A>G	XP_005262213.2:p.Thr1436Ala
XM_005262157.3:c.4267A>G	XP_005262214.2:p.Thr1423Ala
XM_006724666.2:c.4354A>G	XP_006724729.1:p.Thr1452Ala
XM_006724667.2:c.4192A>G	XP_006724730.1:p.Thr1398Ala
XM_006724668.2:c.4471A>G	XP_006724731.1:p.Thr1491Ala
XR_938400.1:n.4739A>G
NM_000489.5:c.4471A>G	NP_000480.3:p.Thr1491Ala
XM_005262153.5:c.4468A>G	XP_005262210.2:p.Thr1490Ala
XM_005262154.5:c.4384A>G	XP_005262211.2:p.Thr1462Ala
XM_005262155.4:c.4354A>G	XP_005262212.2:p.Thr1452Ala
XM_005262156.4:c.4306A>G	XP_005262213.2:p.Thr1436Ala
XM_005262157.5:c.4267A>G	XP_005262214.2:p.Thr1423Ala
XM_006724666.4:c.4354A>G	XP_006724729.1:p.Thr1452Ala
XM_006724667.3:c.4192A>G	XP_006724730.1:p.Thr1398Ala
XM_006724668.3:c.4471A>G	XP_006724731.1:p.Thr1491Ala
XM_017029601.2:c.4381A>G	XP_016885090.1:p.Thr1461Ala
XM_017029602.1:c.4351A>G	XP_016885091.1:p.Thr1451Ala
XM_017029603.1:c.4303A>G	XP_016885092.1:p.Thr1435Ala
XM_017029604.2:c.4270A>G	XP_016885093.1:p.Thr1424Ala
XM_017029605.1:c.4267A>G	XP_016885094.1:p.Thr1423Ala
XM_017029606.2:c.4240A>G	XP_016885095.1:p.Thr1414Ala
XM_017029607.2:c.4237A>G	XP_016885096.1:p.Thr1413Ala
XM_017029608.2:c.4189A>G	XP_016885097.1:p.Thr1397Ala
XM_017029609.1:c.4153A>G	XP_016885098.1:p.Thr1385Ala
XM_017029610.1:c.4150A>G	XP_016885099.1:p.Thr1384Ala
XM_017029611.1:c.4105A>G	XP_016885100.1:p.Thr1369Ala
XR_001755700.2:n.4696A>G
NM_138270.4:c.4357A>G	NP_612114.2:p.Thr1453Ala
NM_000489.6:c.4471A>G MANE Select	NP_000480.3:p.Thr1491Ala
NM_138270.5:c.4357A>G	NP_612114.2:p.Thr1453Ala