Canonical Allele Identifier: CA413704809

Gene: ATRX

Linked Data

• dbSNP Id: rs2062761913
• MyVariant Identifiers: chrX:g.76764031A>T (hg19) ; chrX:g.77508553A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7277T>A MANE Select	ENSP00000362441.4:p.Met2426Lys
ENST00000675732.1:c.2375T>A	ENSP00000502598.1:p.Met792Lys
ENST00000373344.9:c.7277T>A	ENSP00000362441.4:p.Met2426Lys
ENST00000395603.7:c.7163T>A	ENSP00000378967.3:p.Met2388Lys
ENST00000480283.5:c.*6905T>A	ENSP00000480196.1:n.*6905T>A
ENST00000623706.3:n.5597T>A
ENST00000624766.1:n.508T>A
NM_000489.4:c.7277T>A	NP_000480.3:p.Met2426Lys
NM_138270.3:c.7163T>A	NP_612114.2:p.Met2388Lys
XM_005262153.3:c.7274T>A	XP_005262210.2:p.Met2425Lys
XM_005262154.3:c.7190T>A	XP_005262211.2:p.Met2397Lys
XM_005262155.3:c.7160T>A	XP_005262212.2:p.Met2387Lys
XM_005262156.3:c.7112T>A	XP_005262213.2:p.Met2371Lys
XM_005262157.3:c.7073T>A	XP_005262214.2:p.Met2358Lys
XM_006724666.2:c.7160T>A	XP_006724729.1:p.Met2387Lys
XM_006724667.2:c.6998T>A	XP_006724730.1:p.Met2333Lys
XR_938400.1:n.8869T>A
NM_000489.5:c.7277T>A	NP_000480.3:p.Met2426Lys
XM_005262153.5:c.7274T>A	XP_005262210.2:p.Met2425Lys
XM_005262154.5:c.7190T>A	XP_005262211.2:p.Met2397Lys
XM_005262155.4:c.7160T>A	XP_005262212.2:p.Met2387Lys
XM_005262156.4:c.7112T>A	XP_005262213.2:p.Met2371Lys
XM_005262157.5:c.7073T>A	XP_005262214.2:p.Met2358Lys
XM_006724666.4:c.7160T>A	XP_006724729.1:p.Met2387Lys
XM_006724667.3:c.6998T>A	XP_006724730.1:p.Met2333Lys
XM_017029601.2:c.7187T>A	XP_016885090.1:p.Met2396Lys
XM_017029602.1:c.7157T>A	XP_016885091.1:p.Met2386Lys
XM_017029603.1:c.7109T>A	XP_016885092.1:p.Met2370Lys
XM_017029604.2:c.7076T>A	XP_016885093.1:p.Met2359Lys
XM_017029605.1:c.7073T>A	XP_016885094.1:p.Met2358Lys
XM_017029606.2:c.7046T>A	XP_016885095.1:p.Met2349Lys
XM_017029607.2:c.7043T>A	XP_016885096.1:p.Met2348Lys
XM_017029608.2:c.6995T>A	XP_016885097.1:p.Met2332Lys
XM_017029609.1:c.6959T>A	XP_016885098.1:p.Met2320Lys
XM_017029610.1:c.6956T>A	XP_016885099.1:p.Met2319Lys
XM_017029611.1:c.6911T>A	XP_016885100.1:p.Met2304Lys
XR_001755700.2:n.7576T>A
NM_138270.4:c.7163T>A	NP_612114.2:p.Met2388Lys
NM_000489.6:c.7277T>A MANE Select	NP_000480.3:p.Met2426Lys
NM_138270.5:c.7163T>A	NP_612114.2:p.Met2388Lys