Canonical Allele Identifier: CA413703358
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508355A>T , CM000685.2:g.77508355A>T GRCh38
NC_000023.10:g.76763833A>T , CM000685.1:g.76763833A>T GRCh37
NC_000023.9:g.76650489A>T NCBI36
NG_008838.2:g.282867T>A
NG_008838.3:g.282915T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7475T>A MANE Select ENSP00000362441.4:p.Met2492Lys
ENST00000675732.1:c.2573T>A ENSP00000502598.1:p.Met858Lys
ENST00000373344.9:c.7475T>A ENSP00000362441.4:p.Met2492Lys
ENST00000395603.7:c.7361T>A ENSP00000378967.3:p.Met2454Lys
ENST00000480283.5:c.*7103T>A ENSP00000480196.1:n.*7103T>A
ENST00000623706.3:n.5795T>A
NM_000489.4:c.7475T>A NP_000480.3:p.Met2492Lys
NM_138270.3:c.7361T>A NP_612114.2:p.Met2454Lys
XM_005262153.3:c.7472T>A XP_005262210.2:p.Met2491Lys
XM_005262154.3:c.7388T>A XP_005262211.2:p.Met2463Lys
XM_005262155.3:c.7358T>A XP_005262212.2:p.Met2453Lys
XM_005262156.3:c.7310T>A XP_005262213.2:p.Met2437Lys
XM_005262157.3:c.7271T>A XP_005262214.2:p.Met2424Lys
XM_006724666.2:c.7358T>A XP_006724729.1:p.Met2453Lys
XM_006724667.2:c.7196T>A XP_006724730.1:p.Met2399Lys
XR_938400.1:n.9067T>A
NM_000489.5:c.7475T>A NP_000480.3:p.Met2492Lys
XM_005262153.5:c.7472T>A XP_005262210.2:p.Met2491Lys
XM_005262154.5:c.7388T>A XP_005262211.2:p.Met2463Lys
XM_005262155.4:c.7358T>A XP_005262212.2:p.Met2453Lys
XM_005262156.4:c.7310T>A XP_005262213.2:p.Met2437Lys
XM_005262157.5:c.7271T>A XP_005262214.2:p.Met2424Lys
XM_006724666.4:c.7358T>A XP_006724729.1:p.Met2453Lys
XM_006724667.3:c.7196T>A XP_006724730.1:p.Met2399Lys
XM_017029601.2:c.7385T>A XP_016885090.1:p.Met2462Lys
XM_017029602.1:c.7355T>A XP_016885091.1:p.Met2452Lys
XM_017029603.1:c.7307T>A XP_016885092.1:p.Met2436Lys
XM_017029604.2:c.7274T>A XP_016885093.1:p.Met2425Lys
XM_017029605.1:c.7271T>A XP_016885094.1:p.Met2424Lys
XM_017029606.2:c.7244T>A XP_016885095.1:p.Met2415Lys
XM_017029607.2:c.7241T>A XP_016885096.1:p.Met2414Lys
XM_017029608.2:c.7193T>A XP_016885097.1:p.Met2398Lys
XM_017029609.1:c.7157T>A XP_016885098.1:p.Met2386Lys
XM_017029610.1:c.7154T>A XP_016885099.1:p.Met2385Lys
XM_017029611.1:c.7109T>A XP_016885100.1:p.Met2370Lys
XR_001755700.2:n.7774T>A
NM_138270.4:c.7361T>A NP_612114.2:p.Met2454Lys
NM_000489.6:c.7475T>A MANE Select NP_000480.3:p.Met2492Lys
NM_138270.5:c.7361T>A NP_612114.2:p.Met2454Lys