Canonical Allele Identifier: CA10457399

Gene: ATRX

Linked Data

• ClinVar Variation Id: 699664
• ClinVar RCV Id: RCV000867564
• dbSNP Id: rs781853125
• ExAC: X:76764052 T / C
• gnomAD v2: X-76764052-T-C
• gnomAD v3: X-77508574-T-C
• gnomAD v4: X-77508574-T-C
• MyVariant Identifiers: chrX:g.76764052T>C (hg19) ; chrX:g.77508574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508574T>C , CM000685.2:g.77508574T>C	GRCh38
NC_000023.10:g.76764052T>C , CM000685.1:g.76764052T>C	GRCh37
NC_000023.9:g.76650708T>C	NCBI36
NG_008838.2:g.282648A>G
NG_008838.3:g.282696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7256A>G MANE Select	ENSP00000362441.4:p.Asn2419Ser
ENST00000675732.1:c.2354A>G	ENSP00000502598.1:p.Asn785Ser
ENST00000373344.9:c.7256A>G	ENSP00000362441.4:p.Asn2419Ser
ENST00000395603.7:c.7142A>G	ENSP00000378967.3:p.Asn2381Ser
ENST00000480283.5:c.*6884A>G	ENSP00000480196.1:n.*6884A>G
ENST00000623706.3:n.5576A>G
ENST00000624766.1:n.487A>G
NM_000489.4:c.7256A>G	NP_000480.3:p.Asn2419Ser
NM_138270.3:c.7142A>G	NP_612114.2:p.Asn2381Ser
XM_005262153.3:c.7253A>G	XP_005262210.2:p.Asn2418Ser
XM_005262154.3:c.7169A>G	XP_005262211.2:p.Asn2390Ser
XM_005262155.3:c.7139A>G	XP_005262212.2:p.Asn2380Ser
XM_005262156.3:c.7091A>G	XP_005262213.2:p.Asn2364Ser
XM_005262157.3:c.7052A>G	XP_005262214.2:p.Asn2351Ser
XM_006724666.2:c.7139A>G	XP_006724729.1:p.Asn2380Ser
XM_006724667.2:c.6977A>G	XP_006724730.1:p.Asn2326Ser
XR_938400.1:n.8848A>G
NM_000489.5:c.7256A>G	NP_000480.3:p.Asn2419Ser
XM_005262153.5:c.7253A>G	XP_005262210.2:p.Asn2418Ser
XM_005262154.5:c.7169A>G	XP_005262211.2:p.Asn2390Ser
XM_005262155.4:c.7139A>G	XP_005262212.2:p.Asn2380Ser
XM_005262156.4:c.7091A>G	XP_005262213.2:p.Asn2364Ser
XM_005262157.5:c.7052A>G	XP_005262214.2:p.Asn2351Ser
XM_006724666.4:c.7139A>G	XP_006724729.1:p.Asn2380Ser
XM_006724667.3:c.6977A>G	XP_006724730.1:p.Asn2326Ser
XM_017029601.2:c.7166A>G	XP_016885090.1:p.Asn2389Ser
XM_017029602.1:c.7136A>G	XP_016885091.1:p.Asn2379Ser
XM_017029603.1:c.7088A>G	XP_016885092.1:p.Asn2363Ser
XM_017029604.2:c.7055A>G	XP_016885093.1:p.Asn2352Ser
XM_017029605.1:c.7052A>G	XP_016885094.1:p.Asn2351Ser
XM_017029606.2:c.7025A>G	XP_016885095.1:p.Asn2342Ser
XM_017029607.2:c.7022A>G	XP_016885096.1:p.Asn2341Ser
XM_017029608.2:c.6974A>G	XP_016885097.1:p.Asn2325Ser
XM_017029609.1:c.6938A>G	XP_016885098.1:p.Asn2313Ser
XM_017029610.1:c.6935A>G	XP_016885099.1:p.Asn2312Ser
XM_017029611.1:c.6890A>G	XP_016885100.1:p.Asn2297Ser
XR_001755700.2:n.7555A>G
NM_138270.4:c.7142A>G	NP_612114.2:p.Asn2381Ser
NM_000489.6:c.7256A>G MANE Select	NP_000480.3:p.Asn2419Ser
NM_138270.5:c.7142A>G	NP_612114.2:p.Asn2381Ser