Canonical Allele Identifier: CA413708255

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907714T>G (hg19) ; chrX:g.77652224T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652224T>G , CM000685.2:g.77652224T>G	GRCh38
NC_000023.10:g.76907714T>G , CM000685.1:g.76907714T>G	GRCh37
NC_000023.9:g.76794370T>G	NCBI36
NG_008838.2:g.138998A>C
NG_008838.3:g.139046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4447A>C MANE Select	ENSP00000362441.4:p.Ile1483Leu
ENST00000373344.9:c.4447A>C	ENSP00000362441.4:p.Ile1483Leu
ENST00000395603.7:c.4333A>C	ENSP00000378967.3:p.Ile1445Leu
ENST00000480283.5:c.*4075A>C	ENSP00000480196.1:n.*4075A>C
ENST00000623242.3:c.53A>C
NM_000489.4:c.4447A>C	NP_000480.3:p.Ile1483Leu
NM_138270.3:c.4333A>C	NP_612114.2:p.Ile1445Leu
XM_005262153.3:c.4444A>C	XP_005262210.2:p.Ile1482Leu
XM_005262154.3:c.4360A>C	XP_005262211.2:p.Ile1454Leu
XM_005262155.3:c.4330A>C	XP_005262212.2:p.Ile1444Leu
XM_005262156.3:c.4282A>C	XP_005262213.2:p.Ile1428Leu
XM_005262157.3:c.4243A>C	XP_005262214.2:p.Ile1415Leu
XM_006724666.2:c.4330A>C	XP_006724729.1:p.Ile1444Leu
XM_006724667.2:c.4168A>C	XP_006724730.1:p.Ile1390Leu
XM_006724668.2:c.4447A>C	XP_006724731.1:p.Ile1483Leu
XR_938400.1:n.4715A>C
NM_000489.5:c.4447A>C	NP_000480.3:p.Ile1483Leu
XM_005262153.5:c.4444A>C	XP_005262210.2:p.Ile1482Leu
XM_005262154.5:c.4360A>C	XP_005262211.2:p.Ile1454Leu
XM_005262155.4:c.4330A>C	XP_005262212.2:p.Ile1444Leu
XM_005262156.4:c.4282A>C	XP_005262213.2:p.Ile1428Leu
XM_005262157.5:c.4243A>C	XP_005262214.2:p.Ile1415Leu
XM_006724666.4:c.4330A>C	XP_006724729.1:p.Ile1444Leu
XM_006724667.3:c.4168A>C	XP_006724730.1:p.Ile1390Leu
XM_006724668.3:c.4447A>C	XP_006724731.1:p.Ile1483Leu
XM_017029601.2:c.4357A>C	XP_016885090.1:p.Ile1453Leu
XM_017029602.1:c.4327A>C	XP_016885091.1:p.Ile1443Leu
XM_017029603.1:c.4279A>C	XP_016885092.1:p.Ile1427Leu
XM_017029604.2:c.4246A>C	XP_016885093.1:p.Ile1416Leu
XM_017029605.1:c.4243A>C	XP_016885094.1:p.Ile1415Leu
XM_017029606.2:c.4216A>C	XP_016885095.1:p.Ile1406Leu
XM_017029607.2:c.4213A>C	XP_016885096.1:p.Ile1405Leu
XM_017029608.2:c.4165A>C	XP_016885097.1:p.Ile1389Leu
XM_017029609.1:c.4129A>C	XP_016885098.1:p.Ile1377Leu
XM_017029610.1:c.4126A>C	XP_016885099.1:p.Ile1376Leu
XM_017029611.1:c.4081A>C	XP_016885100.1:p.Ile1361Leu
XR_001755700.2:n.4672A>C
NM_138270.4:c.4333A>C	NP_612114.2:p.Ile1445Leu
NM_000489.6:c.4447A>C MANE Select	NP_000480.3:p.Ile1483Leu
NM_138270.5:c.4333A>C	NP_612114.2:p.Ile1445Leu