Canonical Allele Identifier: CA413707685

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907612A>C (hg19) ; chrX:g.77652122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652122A>C , CM000685.2:g.77652122A>C	GRCh38
NC_000023.10:g.76907612A>C , CM000685.1:g.76907612A>C	GRCh37
NC_000023.9:g.76794268A>C	NCBI36
NG_008838.2:g.139100T>G
NG_008838.3:g.139148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4549T>G MANE Select	ENSP00000362441.4:p.Leu1517Val
ENST00000373344.9:c.4549T>G	ENSP00000362441.4:p.Leu1517Val
ENST00000395603.7:c.4435T>G	ENSP00000378967.3:p.Leu1479Val
ENST00000460639.2:n.29T>G
ENST00000480283.5:c.*4177T>G	ENSP00000480196.1:n.*4177T>G
ENST00000623242.3:c.155T>G
NM_000489.4:c.4549T>G	NP_000480.3:p.Leu1517Val
NM_138270.3:c.4435T>G	NP_612114.2:p.Leu1479Val
XM_005262153.3:c.4546T>G	XP_005262210.2:p.Leu1516Val
XM_005262154.3:c.4462T>G	XP_005262211.2:p.Leu1488Val
XM_005262155.3:c.4432T>G	XP_005262212.2:p.Leu1478Val
XM_005262156.3:c.4384T>G	XP_005262213.2:p.Leu1462Val
XM_005262157.3:c.4345T>G	XP_005262214.2:p.Leu1449Val
XM_006724666.2:c.4432T>G	XP_006724729.1:p.Leu1478Val
XM_006724667.2:c.4270T>G	XP_006724730.1:p.Leu1424Val
XM_006724668.2:c.4549T>G	XP_006724731.1:p.Leu1517Val
XR_938400.1:n.4817T>G
NM_000489.5:c.4549T>G	NP_000480.3:p.Leu1517Val
XM_005262153.5:c.4546T>G	XP_005262210.2:p.Leu1516Val
XM_005262154.5:c.4462T>G	XP_005262211.2:p.Leu1488Val
XM_005262155.4:c.4432T>G	XP_005262212.2:p.Leu1478Val
XM_005262156.4:c.4384T>G	XP_005262213.2:p.Leu1462Val
XM_005262157.5:c.4345T>G	XP_005262214.2:p.Leu1449Val
XM_006724666.4:c.4432T>G	XP_006724729.1:p.Leu1478Val
XM_006724667.3:c.4270T>G	XP_006724730.1:p.Leu1424Val
XM_006724668.3:c.4549T>G	XP_006724731.1:p.Leu1517Val
XM_017029601.2:c.4459T>G	XP_016885090.1:p.Leu1487Val
XM_017029602.1:c.4429T>G	XP_016885091.1:p.Leu1477Val
XM_017029603.1:c.4381T>G	XP_016885092.1:p.Leu1461Val
XM_017029604.2:c.4348T>G	XP_016885093.1:p.Leu1450Val
XM_017029605.1:c.4345T>G	XP_016885094.1:p.Leu1449Val
XM_017029606.2:c.4318T>G	XP_016885095.1:p.Leu1440Val
XM_017029607.2:c.4315T>G	XP_016885096.1:p.Leu1439Val
XM_017029608.2:c.4267T>G	XP_016885097.1:p.Leu1423Val
XM_017029609.1:c.4231T>G	XP_016885098.1:p.Leu1411Val
XM_017029610.1:c.4228T>G	XP_016885099.1:p.Leu1410Val
XM_017029611.1:c.4183T>G	XP_016885100.1:p.Leu1395Val
XR_001755700.2:n.4774T>G
NM_138270.4:c.4435T>G	NP_612114.2:p.Leu1479Val
NM_000489.6:c.4549T>G MANE Select	NP_000480.3:p.Leu1517Val
NM_138270.5:c.4435T>G	NP_612114.2:p.Leu1479Val