Canonical Allele Identifier: CA10457392

Gene: ATRX

Linked Data

• dbSNP Id: rs782771681
• ExAC: X:76763959 T / C
• gnomAD v2: X-76763959-T-C
• gnomAD v4: X-77508481-T-C
• MyVariant Identifiers: chrX:g.76763959T>C (hg19) ; chrX:g.77508481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508481T>C , CM000685.2:g.77508481T>C	GRCh38
NC_000023.10:g.76763959T>C , CM000685.1:g.76763959T>C	GRCh37
NC_000023.9:g.76650615T>C	NCBI36
NG_008838.2:g.282741A>G
NG_008838.3:g.282789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7349A>G MANE Select	ENSP00000362441.4:p.Asn2450Ser
ENST00000675732.1:c.2447A>G	ENSP00000502598.1:p.Asn816Ser
ENST00000373344.9:c.7349A>G	ENSP00000362441.4:p.Asn2450Ser
ENST00000395603.7:c.7235A>G	ENSP00000378967.3:p.Asn2412Ser
ENST00000480283.5:c.*6977A>G	ENSP00000480196.1:n.*6977A>G
ENST00000623706.3:n.5669A>G
ENST00000624766.1:n.580A>G
NM_000489.4:c.7349A>G	NP_000480.3:p.Asn2450Ser
NM_138270.3:c.7235A>G	NP_612114.2:p.Asn2412Ser
XM_005262153.3:c.7346A>G	XP_005262210.2:p.Asn2449Ser
XM_005262154.3:c.7262A>G	XP_005262211.2:p.Asn2421Ser
XM_005262155.3:c.7232A>G	XP_005262212.2:p.Asn2411Ser
XM_005262156.3:c.7184A>G	XP_005262213.2:p.Asn2395Ser
XM_005262157.3:c.7145A>G	XP_005262214.2:p.Asn2382Ser
XM_006724666.2:c.7232A>G	XP_006724729.1:p.Asn2411Ser
XM_006724667.2:c.7070A>G	XP_006724730.1:p.Asn2357Ser
XR_938400.1:n.8941A>G
NM_000489.5:c.7349A>G	NP_000480.3:p.Asn2450Ser
XM_005262153.5:c.7346A>G	XP_005262210.2:p.Asn2449Ser
XM_005262154.5:c.7262A>G	XP_005262211.2:p.Asn2421Ser
XM_005262155.4:c.7232A>G	XP_005262212.2:p.Asn2411Ser
XM_005262156.4:c.7184A>G	XP_005262213.2:p.Asn2395Ser
XM_005262157.5:c.7145A>G	XP_005262214.2:p.Asn2382Ser
XM_006724666.4:c.7232A>G	XP_006724729.1:p.Asn2411Ser
XM_006724667.3:c.7070A>G	XP_006724730.1:p.Asn2357Ser
XM_017029601.2:c.7259A>G	XP_016885090.1:p.Asn2420Ser
XM_017029602.1:c.7229A>G	XP_016885091.1:p.Asn2410Ser
XM_017029603.1:c.7181A>G	XP_016885092.1:p.Asn2394Ser
XM_017029604.2:c.7148A>G	XP_016885093.1:p.Asn2383Ser
XM_017029605.1:c.7145A>G	XP_016885094.1:p.Asn2382Ser
XM_017029606.2:c.7118A>G	XP_016885095.1:p.Asn2373Ser
XM_017029607.2:c.7115A>G	XP_016885096.1:p.Asn2372Ser
XM_017029608.2:c.7067A>G	XP_016885097.1:p.Asn2356Ser
XM_017029609.1:c.7031A>G	XP_016885098.1:p.Asn2344Ser
XM_017029610.1:c.7028A>G	XP_016885099.1:p.Asn2343Ser
XM_017029611.1:c.6983A>G	XP_016885100.1:p.Asn2328Ser
XR_001755700.2:n.7648A>G
NM_138270.4:c.7235A>G	NP_612114.2:p.Asn2412Ser
NM_000489.6:c.7349A>G MANE Select	NP_000480.3:p.Asn2450Ser
NM_138270.5:c.7235A>G	NP_612114.2:p.Asn2412Ser