Canonical Allele Identifier: CA413708246

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907713A>G (hg19) ; chrX:g.77652223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652223A>G , CM000685.2:g.77652223A>G	GRCh38
NC_000023.10:g.76907713A>G , CM000685.1:g.76907713A>G	GRCh37
NC_000023.9:g.76794369A>G	NCBI36
NG_008838.2:g.138999T>C
NG_008838.3:g.139047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4448T>C MANE Select	ENSP00000362441.4:p.Ile1483Thr
ENST00000373344.9:c.4448T>C	ENSP00000362441.4:p.Ile1483Thr
ENST00000395603.7:c.4334T>C	ENSP00000378967.3:p.Ile1445Thr
ENST00000480283.5:c.*4076T>C	ENSP00000480196.1:n.*4076T>C
ENST00000623242.3:c.54T>C
NM_000489.4:c.4448T>C	NP_000480.3:p.Ile1483Thr
NM_138270.3:c.4334T>C	NP_612114.2:p.Ile1445Thr
XM_005262153.3:c.4445T>C	XP_005262210.2:p.Ile1482Thr
XM_005262154.3:c.4361T>C	XP_005262211.2:p.Ile1454Thr
XM_005262155.3:c.4331T>C	XP_005262212.2:p.Ile1444Thr
XM_005262156.3:c.4283T>C	XP_005262213.2:p.Ile1428Thr
XM_005262157.3:c.4244T>C	XP_005262214.2:p.Ile1415Thr
XM_006724666.2:c.4331T>C	XP_006724729.1:p.Ile1444Thr
XM_006724667.2:c.4169T>C	XP_006724730.1:p.Ile1390Thr
XM_006724668.2:c.4448T>C	XP_006724731.1:p.Ile1483Thr
XR_938400.1:n.4716T>C
NM_000489.5:c.4448T>C	NP_000480.3:p.Ile1483Thr
XM_005262153.5:c.4445T>C	XP_005262210.2:p.Ile1482Thr
XM_005262154.5:c.4361T>C	XP_005262211.2:p.Ile1454Thr
XM_005262155.4:c.4331T>C	XP_005262212.2:p.Ile1444Thr
XM_005262156.4:c.4283T>C	XP_005262213.2:p.Ile1428Thr
XM_005262157.5:c.4244T>C	XP_005262214.2:p.Ile1415Thr
XM_006724666.4:c.4331T>C	XP_006724729.1:p.Ile1444Thr
XM_006724667.3:c.4169T>C	XP_006724730.1:p.Ile1390Thr
XM_006724668.3:c.4448T>C	XP_006724731.1:p.Ile1483Thr
XM_017029601.2:c.4358T>C	XP_016885090.1:p.Ile1453Thr
XM_017029602.1:c.4328T>C	XP_016885091.1:p.Ile1443Thr
XM_017029603.1:c.4280T>C	XP_016885092.1:p.Ile1427Thr
XM_017029604.2:c.4247T>C	XP_016885093.1:p.Ile1416Thr
XM_017029605.1:c.4244T>C	XP_016885094.1:p.Ile1415Thr
XM_017029606.2:c.4217T>C	XP_016885095.1:p.Ile1406Thr
XM_017029607.2:c.4214T>C	XP_016885096.1:p.Ile1405Thr
XM_017029608.2:c.4166T>C	XP_016885097.1:p.Ile1389Thr
XM_017029609.1:c.4130T>C	XP_016885098.1:p.Ile1377Thr
XM_017029610.1:c.4127T>C	XP_016885099.1:p.Ile1376Thr
XM_017029611.1:c.4082T>C	XP_016885100.1:p.Ile1361Thr
XR_001755700.2:n.4673T>C
NM_138270.4:c.4334T>C	NP_612114.2:p.Ile1445Thr
NM_000489.6:c.4448T>C MANE Select	NP_000480.3:p.Ile1483Thr
NM_138270.5:c.4334T>C	NP_612114.2:p.Ile1445Thr