Canonical Allele Identifier: CA10457384

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1672157
• ClinVar RCV Id: RCV002201542
• dbSNP Id: rs782631992
• ExAC: X:76763908 A / G
• gnomAD v2: X-76763908-A-G
• MyVariant Identifiers: chrX:g.76763908A>G (hg19) ; chrX:g.77508430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508430A>G , CM000685.2:g.77508430A>G	GRCh38
NC_000023.10:g.76763908A>G , CM000685.1:g.76763908A>G	GRCh37
NC_000023.9:g.76650564A>G	NCBI36
NG_008838.2:g.282792T>C
NG_008838.3:g.282840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7400T>C MANE Select	ENSP00000362441.4:p.Met2467Thr
ENST00000675732.1:c.2498T>C	ENSP00000502598.1:p.Met833Thr
ENST00000373344.9:c.7400T>C	ENSP00000362441.4:p.Met2467Thr
ENST00000395603.7:c.7286T>C	ENSP00000378967.3:p.Met2429Thr
ENST00000480283.5:c.*7028T>C	ENSP00000480196.1:n.*7028T>C
ENST00000623706.3:n.5720T>C
NM_000489.4:c.7400T>C	NP_000480.3:p.Met2467Thr
NM_138270.3:c.7286T>C	NP_612114.2:p.Met2429Thr
XM_005262153.3:c.7397T>C	XP_005262210.2:p.Met2466Thr
XM_005262154.3:c.7313T>C	XP_005262211.2:p.Met2438Thr
XM_005262155.3:c.7283T>C	XP_005262212.2:p.Met2428Thr
XM_005262156.3:c.7235T>C	XP_005262213.2:p.Met2412Thr
XM_005262157.3:c.7196T>C	XP_005262214.2:p.Met2399Thr
XM_006724666.2:c.7283T>C	XP_006724729.1:p.Met2428Thr
XM_006724667.2:c.7121T>C	XP_006724730.1:p.Met2374Thr
XR_938400.1:n.8992T>C
NM_000489.5:c.7400T>C	NP_000480.3:p.Met2467Thr
XM_005262153.5:c.7397T>C	XP_005262210.2:p.Met2466Thr
XM_005262154.5:c.7313T>C	XP_005262211.2:p.Met2438Thr
XM_005262155.4:c.7283T>C	XP_005262212.2:p.Met2428Thr
XM_005262156.4:c.7235T>C	XP_005262213.2:p.Met2412Thr
XM_005262157.5:c.7196T>C	XP_005262214.2:p.Met2399Thr
XM_006724666.4:c.7283T>C	XP_006724729.1:p.Met2428Thr
XM_006724667.3:c.7121T>C	XP_006724730.1:p.Met2374Thr
XM_017029601.2:c.7310T>C	XP_016885090.1:p.Met2437Thr
XM_017029602.1:c.7280T>C	XP_016885091.1:p.Met2427Thr
XM_017029603.1:c.7232T>C	XP_016885092.1:p.Met2411Thr
XM_017029604.2:c.7199T>C	XP_016885093.1:p.Met2400Thr
XM_017029605.1:c.7196T>C	XP_016885094.1:p.Met2399Thr
XM_017029606.2:c.7169T>C	XP_016885095.1:p.Met2390Thr
XM_017029607.2:c.7166T>C	XP_016885096.1:p.Met2389Thr
XM_017029608.2:c.7118T>C	XP_016885097.1:p.Met2373Thr
XM_017029609.1:c.7082T>C	XP_016885098.1:p.Met2361Thr
XM_017029610.1:c.7079T>C	XP_016885099.1:p.Met2360Thr
XM_017029611.1:c.7034T>C	XP_016885100.1:p.Met2345Thr
XR_001755700.2:n.7699T>C
NM_138270.4:c.7286T>C	NP_612114.2:p.Met2429Thr
NM_000489.6:c.7400T>C MANE Select	NP_000480.3:p.Met2467Thr
NM_138270.5:c.7286T>C	NP_612114.2:p.Met2429Thr