Canonical Allele Identifier: CA413704382

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763978A>C (hg19) ; chrX:g.77508500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508500A>C , CM000685.2:g.77508500A>C	GRCh38
NC_000023.10:g.76763978A>C , CM000685.1:g.76763978A>C	GRCh37
NC_000023.9:g.76650634A>C	NCBI36
NG_008838.2:g.282722T>G
NG_008838.3:g.282770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7330T>G MANE Select	ENSP00000362441.4:p.Leu2444Val
ENST00000675732.1:c.2428T>G	ENSP00000502598.1:p.Leu810Val
ENST00000373344.9:c.7330T>G	ENSP00000362441.4:p.Leu2444Val
ENST00000395603.7:c.7216T>G	ENSP00000378967.3:p.Leu2406Val
ENST00000480283.5:c.*6958T>G	ENSP00000480196.1:n.*6958T>G
ENST00000623706.3:n.5650T>G
ENST00000624766.1:n.561T>G
NM_000489.4:c.7330T>G	NP_000480.3:p.Leu2444Val
NM_138270.3:c.7216T>G	NP_612114.2:p.Leu2406Val
XM_005262153.3:c.7327T>G	XP_005262210.2:p.Leu2443Val
XM_005262154.3:c.7243T>G	XP_005262211.2:p.Leu2415Val
XM_005262155.3:c.7213T>G	XP_005262212.2:p.Leu2405Val
XM_005262156.3:c.7165T>G	XP_005262213.2:p.Leu2389Val
XM_005262157.3:c.7126T>G	XP_005262214.2:p.Leu2376Val
XM_006724666.2:c.7213T>G	XP_006724729.1:p.Leu2405Val
XM_006724667.2:c.7051T>G	XP_006724730.1:p.Leu2351Val
XR_938400.1:n.8922T>G
NM_000489.5:c.7330T>G	NP_000480.3:p.Leu2444Val
XM_005262153.5:c.7327T>G	XP_005262210.2:p.Leu2443Val
XM_005262154.5:c.7243T>G	XP_005262211.2:p.Leu2415Val
XM_005262155.4:c.7213T>G	XP_005262212.2:p.Leu2405Val
XM_005262156.4:c.7165T>G	XP_005262213.2:p.Leu2389Val
XM_005262157.5:c.7126T>G	XP_005262214.2:p.Leu2376Val
XM_006724666.4:c.7213T>G	XP_006724729.1:p.Leu2405Val
XM_006724667.3:c.7051T>G	XP_006724730.1:p.Leu2351Val
XM_017029601.2:c.7240T>G	XP_016885090.1:p.Leu2414Val
XM_017029602.1:c.7210T>G	XP_016885091.1:p.Leu2404Val
XM_017029603.1:c.7162T>G	XP_016885092.1:p.Leu2388Val
XM_017029604.2:c.7129T>G	XP_016885093.1:p.Leu2377Val
XM_017029605.1:c.7126T>G	XP_016885094.1:p.Leu2376Val
XM_017029606.2:c.7099T>G	XP_016885095.1:p.Leu2367Val
XM_017029607.2:c.7096T>G	XP_016885096.1:p.Leu2366Val
XM_017029608.2:c.7048T>G	XP_016885097.1:p.Leu2350Val
XM_017029609.1:c.7012T>G	XP_016885098.1:p.Leu2338Val
XM_017029610.1:c.7009T>G	XP_016885099.1:p.Leu2337Val
XM_017029611.1:c.6964T>G	XP_016885100.1:p.Leu2322Val
XR_001755700.2:n.7629T>G
NM_138270.4:c.7216T>G	NP_612114.2:p.Leu2406Val
NM_000489.6:c.7330T>G MANE Select	NP_000480.3:p.Leu2444Val
NM_138270.5:c.7216T>G	NP_612114.2:p.Leu2406Val