Canonical Allele Identifier: CA413704098

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2092867
• ClinVar RCV Id: RCV003018417
• MyVariant Identifiers: chrX:g.76763941A>C (hg19) ; chrX:g.77508463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508463A>C , CM000685.2:g.77508463A>C	GRCh38
NC_000023.10:g.76763941A>C , CM000685.1:g.76763941A>C	GRCh37
NC_000023.9:g.76650597A>C	NCBI36
NG_008838.2:g.282759T>G
NG_008838.3:g.282807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7367T>G MANE Select	ENSP00000362441.4:p.Met2456Arg
ENST00000675732.1:c.2465T>G	ENSP00000502598.1:p.Met822Arg
ENST00000373344.9:c.7367T>G	ENSP00000362441.4:p.Met2456Arg
ENST00000395603.7:c.7253T>G	ENSP00000378967.3:p.Met2418Arg
ENST00000480283.5:c.*6995T>G	ENSP00000480196.1:n.*6995T>G
ENST00000623706.3:n.5687T>G
NM_000489.4:c.7367T>G	NP_000480.3:p.Met2456Arg
NM_138270.3:c.7253T>G	NP_612114.2:p.Met2418Arg
XM_005262153.3:c.7364T>G	XP_005262210.2:p.Met2455Arg
XM_005262154.3:c.7280T>G	XP_005262211.2:p.Met2427Arg
XM_005262155.3:c.7250T>G	XP_005262212.2:p.Met2417Arg
XM_005262156.3:c.7202T>G	XP_005262213.2:p.Met2401Arg
XM_005262157.3:c.7163T>G	XP_005262214.2:p.Met2388Arg
XM_006724666.2:c.7250T>G	XP_006724729.1:p.Met2417Arg
XM_006724667.2:c.7088T>G	XP_006724730.1:p.Met2363Arg
XR_938400.1:n.8959T>G
NM_000489.5:c.7367T>G	NP_000480.3:p.Met2456Arg
XM_005262153.5:c.7364T>G	XP_005262210.2:p.Met2455Arg
XM_005262154.5:c.7280T>G	XP_005262211.2:p.Met2427Arg
XM_005262155.4:c.7250T>G	XP_005262212.2:p.Met2417Arg
XM_005262156.4:c.7202T>G	XP_005262213.2:p.Met2401Arg
XM_005262157.5:c.7163T>G	XP_005262214.2:p.Met2388Arg
XM_006724666.4:c.7250T>G	XP_006724729.1:p.Met2417Arg
XM_006724667.3:c.7088T>G	XP_006724730.1:p.Met2363Arg
XM_017029601.2:c.7277T>G	XP_016885090.1:p.Met2426Arg
XM_017029602.1:c.7247T>G	XP_016885091.1:p.Met2416Arg
XM_017029603.1:c.7199T>G	XP_016885092.1:p.Met2400Arg
XM_017029604.2:c.7166T>G	XP_016885093.1:p.Met2389Arg
XM_017029605.1:c.7163T>G	XP_016885094.1:p.Met2388Arg
XM_017029606.2:c.7136T>G	XP_016885095.1:p.Met2379Arg
XM_017029607.2:c.7133T>G	XP_016885096.1:p.Met2378Arg
XM_017029608.2:c.7085T>G	XP_016885097.1:p.Met2362Arg
XM_017029609.1:c.7049T>G	XP_016885098.1:p.Met2350Arg
XM_017029610.1:c.7046T>G	XP_016885099.1:p.Met2349Arg
XM_017029611.1:c.7001T>G	XP_016885100.1:p.Met2334Arg
XR_001755700.2:n.7666T>G
NM_138270.4:c.7253T>G	NP_612114.2:p.Met2418Arg
NM_000489.6:c.7367T>G MANE Select	NP_000480.3:p.Met2456Arg
NM_138270.5:c.7253T>G	NP_612114.2:p.Met2418Arg