Canonical Allele Identifier: CA413708146

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907690T>G (hg19) ; chrX:g.77652200T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4471A>C MANE Select	ENSP00000362441.4:p.Thr1491Pro
ENST00000373344.9:c.4471A>C	ENSP00000362441.4:p.Thr1491Pro
ENST00000395603.7:c.4357A>C	ENSP00000378967.3:p.Thr1453Pro
ENST00000480283.5:c.*4099A>C	ENSP00000480196.1:n.*4099A>C
ENST00000623242.3:c.77A>C
NM_000489.4:c.4471A>C	NP_000480.3:p.Thr1491Pro
NM_138270.3:c.4357A>C	NP_612114.2:p.Thr1453Pro
XM_005262153.3:c.4468A>C	XP_005262210.2:p.Thr1490Pro
XM_005262154.3:c.4384A>C	XP_005262211.2:p.Thr1462Pro
XM_005262155.3:c.4354A>C	XP_005262212.2:p.Thr1452Pro
XM_005262156.3:c.4306A>C	XP_005262213.2:p.Thr1436Pro
XM_005262157.3:c.4267A>C	XP_005262214.2:p.Thr1423Pro
XM_006724666.2:c.4354A>C	XP_006724729.1:p.Thr1452Pro
XM_006724667.2:c.4192A>C	XP_006724730.1:p.Thr1398Pro
XM_006724668.2:c.4471A>C	XP_006724731.1:p.Thr1491Pro
XR_938400.1:n.4739A>C
NM_000489.5:c.4471A>C	NP_000480.3:p.Thr1491Pro
XM_005262153.5:c.4468A>C	XP_005262210.2:p.Thr1490Pro
XM_005262154.5:c.4384A>C	XP_005262211.2:p.Thr1462Pro
XM_005262155.4:c.4354A>C	XP_005262212.2:p.Thr1452Pro
XM_005262156.4:c.4306A>C	XP_005262213.2:p.Thr1436Pro
XM_005262157.5:c.4267A>C	XP_005262214.2:p.Thr1423Pro
XM_006724666.4:c.4354A>C	XP_006724729.1:p.Thr1452Pro
XM_006724667.3:c.4192A>C	XP_006724730.1:p.Thr1398Pro
XM_006724668.3:c.4471A>C	XP_006724731.1:p.Thr1491Pro
XM_017029601.2:c.4381A>C	XP_016885090.1:p.Thr1461Pro
XM_017029602.1:c.4351A>C	XP_016885091.1:p.Thr1451Pro
XM_017029603.1:c.4303A>C	XP_016885092.1:p.Thr1435Pro
XM_017029604.2:c.4270A>C	XP_016885093.1:p.Thr1424Pro
XM_017029605.1:c.4267A>C	XP_016885094.1:p.Thr1423Pro
XM_017029606.2:c.4240A>C	XP_016885095.1:p.Thr1414Pro
XM_017029607.2:c.4237A>C	XP_016885096.1:p.Thr1413Pro
XM_017029608.2:c.4189A>C	XP_016885097.1:p.Thr1397Pro
XM_017029609.1:c.4153A>C	XP_016885098.1:p.Thr1385Pro
XM_017029610.1:c.4150A>C	XP_016885099.1:p.Thr1384Pro
XM_017029611.1:c.4105A>C	XP_016885100.1:p.Thr1369Pro
XR_001755700.2:n.4696A>C
NM_138270.4:c.4357A>C	NP_612114.2:p.Thr1453Pro
NM_000489.6:c.4471A>C MANE Select	NP_000480.3:p.Thr1491Pro
NM_138270.5:c.4357A>C	NP_612114.2:p.Thr1453Pro