Canonical Allele Identifier: CA413704365

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649397
• MyVariant Identifiers: chrX:g.76763976C>G (hg19) ; chrX:g.77508498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508498C>G , CM000685.2:g.77508498C>G	GRCh38
NC_000023.10:g.76763976C>G , CM000685.1:g.76763976C>G	GRCh37
NC_000023.9:g.76650632C>G	NCBI36
NG_008838.2:g.282724G>C
NG_008838.3:g.282772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7332G>C MANE Select	ENSP00000362441.4:p.Leu2444Phe
ENST00000675732.1:c.2430G>C	ENSP00000502598.1:p.Leu810Phe
ENST00000373344.9:c.7332G>C	ENSP00000362441.4:p.Leu2444Phe
ENST00000395603.7:c.7218G>C	ENSP00000378967.3:p.Leu2406Phe
ENST00000480283.5:c.*6960G>C	ENSP00000480196.1:n.*6960G>C
ENST00000623706.3:n.5652G>C
ENST00000624766.1:n.563G>C
NM_000489.4:c.7332G>C	NP_000480.3:p.Leu2444Phe
NM_138270.3:c.7218G>C	NP_612114.2:p.Leu2406Phe
XM_005262153.3:c.7329G>C	XP_005262210.2:p.Leu2443Phe
XM_005262154.3:c.7245G>C	XP_005262211.2:p.Leu2415Phe
XM_005262155.3:c.7215G>C	XP_005262212.2:p.Leu2405Phe
XM_005262156.3:c.7167G>C	XP_005262213.2:p.Leu2389Phe
XM_005262157.3:c.7128G>C	XP_005262214.2:p.Leu2376Phe
XM_006724666.2:c.7215G>C	XP_006724729.1:p.Leu2405Phe
XM_006724667.2:c.7053G>C	XP_006724730.1:p.Leu2351Phe
XR_938400.1:n.8924G>C
NM_000489.5:c.7332G>C	NP_000480.3:p.Leu2444Phe
XM_005262153.5:c.7329G>C	XP_005262210.2:p.Leu2443Phe
XM_005262154.5:c.7245G>C	XP_005262211.2:p.Leu2415Phe
XM_005262155.4:c.7215G>C	XP_005262212.2:p.Leu2405Phe
XM_005262156.4:c.7167G>C	XP_005262213.2:p.Leu2389Phe
XM_005262157.5:c.7128G>C	XP_005262214.2:p.Leu2376Phe
XM_006724666.4:c.7215G>C	XP_006724729.1:p.Leu2405Phe
XM_006724667.3:c.7053G>C	XP_006724730.1:p.Leu2351Phe
XM_017029601.2:c.7242G>C	XP_016885090.1:p.Leu2414Phe
XM_017029602.1:c.7212G>C	XP_016885091.1:p.Leu2404Phe
XM_017029603.1:c.7164G>C	XP_016885092.1:p.Leu2388Phe
XM_017029604.2:c.7131G>C	XP_016885093.1:p.Leu2377Phe
XM_017029605.1:c.7128G>C	XP_016885094.1:p.Leu2376Phe
XM_017029606.2:c.7101G>C	XP_016885095.1:p.Leu2367Phe
XM_017029607.2:c.7098G>C	XP_016885096.1:p.Leu2366Phe
XM_017029608.2:c.7050G>C	XP_016885097.1:p.Leu2350Phe
XM_017029609.1:c.7014G>C	XP_016885098.1:p.Leu2338Phe
XM_017029610.1:c.7011G>C	XP_016885099.1:p.Leu2337Phe
XM_017029611.1:c.6966G>C	XP_016885100.1:p.Leu2322Phe
XR_001755700.2:n.7631G>C
NM_138270.4:c.7218G>C	NP_612114.2:p.Leu2406Phe
NM_000489.6:c.7332G>C MANE Select	NP_000480.3:p.Leu2444Phe
NM_138270.5:c.7218G>C	NP_612114.2:p.Leu2406Phe