Canonical Allele Identifier: CA10457376

Gene: ATRX

Linked Data

• ClinVar Variation Id: 281524
• ClinVar RCV Id: RCV000353527 ; RCV001087963
• dbSNP Id: rs200478641
• ExAC: X:76763873 T / C
• gnomAD v2: X-76763873-T-C
• gnomAD v3: X-77508395-T-C
• gnomAD v4: X-77508395-T-C
• MyVariant Identifiers: chrX:g.76763873T>C (hg19) ; chrX:g.77508395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508395T>C , CM000685.2:g.77508395T>C	GRCh38
NC_000023.10:g.76763873T>C , CM000685.1:g.76763873T>C	GRCh37
NC_000023.9:g.76650529T>C	NCBI36
NG_008838.2:g.282827A>G
NG_008838.3:g.282875A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7435A>G MANE Select	ENSP00000362441.4:p.Met2479Val
ENST00000675732.1:c.2533A>G	ENSP00000502598.1:p.Met845Val
ENST00000373344.9:c.7435A>G	ENSP00000362441.4:p.Met2479Val
ENST00000395603.7:c.7321A>G	ENSP00000378967.3:p.Met2441Val
ENST00000480283.5:c.*7063A>G	ENSP00000480196.1:n.*7063A>G
ENST00000623706.3:n.5755A>G
NM_000489.4:c.7435A>G	NP_000480.3:p.Met2479Val
NM_138270.3:c.7321A>G	NP_612114.2:p.Met2441Val
XM_005262153.3:c.7432A>G	XP_005262210.2:p.Met2478Val
XM_005262154.3:c.7348A>G	XP_005262211.2:p.Met2450Val
XM_005262155.3:c.7318A>G	XP_005262212.2:p.Met2440Val
XM_005262156.3:c.7270A>G	XP_005262213.2:p.Met2424Val
XM_005262157.3:c.7231A>G	XP_005262214.2:p.Met2411Val
XM_006724666.2:c.7318A>G	XP_006724729.1:p.Met2440Val
XM_006724667.2:c.7156A>G	XP_006724730.1:p.Met2386Val
XR_938400.1:n.9027A>G
NM_000489.5:c.7435A>G	NP_000480.3:p.Met2479Val
XM_005262153.5:c.7432A>G	XP_005262210.2:p.Met2478Val
XM_005262154.5:c.7348A>G	XP_005262211.2:p.Met2450Val
XM_005262155.4:c.7318A>G	XP_005262212.2:p.Met2440Val
XM_005262156.4:c.7270A>G	XP_005262213.2:p.Met2424Val
XM_005262157.5:c.7231A>G	XP_005262214.2:p.Met2411Val
XM_006724666.4:c.7318A>G	XP_006724729.1:p.Met2440Val
XM_006724667.3:c.7156A>G	XP_006724730.1:p.Met2386Val
XM_017029601.2:c.7345A>G	XP_016885090.1:p.Met2449Val
XM_017029602.1:c.7315A>G	XP_016885091.1:p.Met2439Val
XM_017029603.1:c.7267A>G	XP_016885092.1:p.Met2423Val
XM_017029604.2:c.7234A>G	XP_016885093.1:p.Met2412Val
XM_017029605.1:c.7231A>G	XP_016885094.1:p.Met2411Val
XM_017029606.2:c.7204A>G	XP_016885095.1:p.Met2402Val
XM_017029607.2:c.7201A>G	XP_016885096.1:p.Met2401Val
XM_017029608.2:c.7153A>G	XP_016885097.1:p.Met2385Val
XM_017029609.1:c.7117A>G	XP_016885098.1:p.Met2373Val
XM_017029610.1:c.7114A>G	XP_016885099.1:p.Met2372Val
XM_017029611.1:c.7069A>G	XP_016885100.1:p.Met2357Val
XR_001755700.2:n.7734A>G
NM_138270.4:c.7321A>G	NP_612114.2:p.Met2441Val
NM_000489.6:c.7435A>G MANE Select	NP_000480.3:p.Met2479Val
NM_138270.5:c.7321A>G	NP_612114.2:p.Met2441Val