Canonical Allele Identifier: CA413704804

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764031A>C (hg19) ; chrX:g.77508553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508553A>C , CM000685.2:g.77508553A>C	GRCh38
NC_000023.10:g.76764031A>C , CM000685.1:g.76764031A>C	GRCh37
NC_000023.9:g.76650687A>C	NCBI36
NG_008838.2:g.282669T>G
NG_008838.3:g.282717T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7277T>G MANE Select	ENSP00000362441.4:p.Met2426Arg
ENST00000675732.1:c.2375T>G	ENSP00000502598.1:p.Met792Arg
ENST00000373344.9:c.7277T>G	ENSP00000362441.4:p.Met2426Arg
ENST00000395603.7:c.7163T>G	ENSP00000378967.3:p.Met2388Arg
ENST00000480283.5:c.*6905T>G	ENSP00000480196.1:n.*6905T>G
ENST00000623706.3:n.5597T>G
ENST00000624766.1:n.508T>G
NM_000489.4:c.7277T>G	NP_000480.3:p.Met2426Arg
NM_138270.3:c.7163T>G	NP_612114.2:p.Met2388Arg
XM_005262153.3:c.7274T>G	XP_005262210.2:p.Met2425Arg
XM_005262154.3:c.7190T>G	XP_005262211.2:p.Met2397Arg
XM_005262155.3:c.7160T>G	XP_005262212.2:p.Met2387Arg
XM_005262156.3:c.7112T>G	XP_005262213.2:p.Met2371Arg
XM_005262157.3:c.7073T>G	XP_005262214.2:p.Met2358Arg
XM_006724666.2:c.7160T>G	XP_006724729.1:p.Met2387Arg
XM_006724667.2:c.6998T>G	XP_006724730.1:p.Met2333Arg
XR_938400.1:n.8869T>G
NM_000489.5:c.7277T>G	NP_000480.3:p.Met2426Arg
XM_005262153.5:c.7274T>G	XP_005262210.2:p.Met2425Arg
XM_005262154.5:c.7190T>G	XP_005262211.2:p.Met2397Arg
XM_005262155.4:c.7160T>G	XP_005262212.2:p.Met2387Arg
XM_005262156.4:c.7112T>G	XP_005262213.2:p.Met2371Arg
XM_005262157.5:c.7073T>G	XP_005262214.2:p.Met2358Arg
XM_006724666.4:c.7160T>G	XP_006724729.1:p.Met2387Arg
XM_006724667.3:c.6998T>G	XP_006724730.1:p.Met2333Arg
XM_017029601.2:c.7187T>G	XP_016885090.1:p.Met2396Arg
XM_017029602.1:c.7157T>G	XP_016885091.1:p.Met2386Arg
XM_017029603.1:c.7109T>G	XP_016885092.1:p.Met2370Arg
XM_017029604.2:c.7076T>G	XP_016885093.1:p.Met2359Arg
XM_017029605.1:c.7073T>G	XP_016885094.1:p.Met2358Arg
XM_017029606.2:c.7046T>G	XP_016885095.1:p.Met2349Arg
XM_017029607.2:c.7043T>G	XP_016885096.1:p.Met2348Arg
XM_017029608.2:c.6995T>G	XP_016885097.1:p.Met2332Arg
XM_017029609.1:c.6959T>G	XP_016885098.1:p.Met2320Arg
XM_017029610.1:c.6956T>G	XP_016885099.1:p.Met2319Arg
XM_017029611.1:c.6911T>G	XP_016885100.1:p.Met2304Arg
XR_001755700.2:n.7576T>G
NM_138270.4:c.7163T>G	NP_612114.2:p.Met2388Arg
NM_000489.6:c.7277T>G MANE Select	NP_000480.3:p.Met2426Arg
NM_138270.5:c.7163T>G	NP_612114.2:p.Met2388Arg