Canonical Allele Identifier: CA517374004
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs1557034710
MyVariant Identifiers: chrX:g.76763880T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508402T>C , CM000685.2:g.77508402T>C GRCh38
NC_000023.10:g.76763880T>C , CM000685.1:g.76763880T>C GRCh37
NC_000023.9:g.76650536T>C NCBI36
NG_008838.2:g.282820A>G
NG_008838.3:g.282868A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7428A>G MANE Select ENSP00000362441.4:p.Pro2476=
ENST00000675732.1:c.2526A>G ENSP00000502598.1:p.Pro842=
ENST00000373344.9:c.7428A>G ENSP00000362441.4:p.Pro2476=
ENST00000395603.7:c.7314A>G ENSP00000378967.3:p.Pro2438=
ENST00000480283.5:c.*7056A>G ENSP00000480196.1:n.*7056A>G
ENST00000623706.3:n.5748A>G
NM_000489.4:c.7428A>G NP_000480.3:p.Pro2476=
NM_138270.3:c.7314A>G NP_612114.2:p.Pro2438=
XM_005262153.3:c.7425A>G XP_005262210.2:p.Pro2475=
XM_005262154.3:c.7341A>G XP_005262211.2:p.Pro2447=
XM_005262155.3:c.7311A>G XP_005262212.2:p.Pro2437=
XM_005262156.3:c.7263A>G XP_005262213.2:p.Pro2421=
XM_005262157.3:c.7224A>G XP_005262214.2:p.Pro2408=
XM_006724666.2:c.7311A>G XP_006724729.1:p.Pro2437=
XM_006724667.2:c.7149A>G XP_006724730.1:p.Pro2383=
XR_938400.1:n.9020A>G
NM_000489.5:c.7428A>G NP_000480.3:p.Pro2476=
XM_005262153.5:c.7425A>G XP_005262210.2:p.Pro2475=
XM_005262154.5:c.7341A>G XP_005262211.2:p.Pro2447=
XM_005262155.4:c.7311A>G XP_005262212.2:p.Pro2437=
XM_005262156.4:c.7263A>G XP_005262213.2:p.Pro2421=
XM_005262157.5:c.7224A>G XP_005262214.2:p.Pro2408=
XM_006724666.4:c.7311A>G XP_006724729.1:p.Pro2437=
XM_006724667.3:c.7149A>G XP_006724730.1:p.Pro2383=
XM_017029601.2:c.7338A>G XP_016885090.1:p.Pro2446=
XM_017029602.1:c.7308A>G XP_016885091.1:p.Pro2436=
XM_017029603.1:c.7260A>G XP_016885092.1:p.Pro2420=
XM_017029604.2:c.7227A>G XP_016885093.1:p.Pro2409=
XM_017029605.1:c.7224A>G XP_016885094.1:p.Pro2408=
XM_017029606.2:c.7197A>G XP_016885095.1:p.Pro2399=
XM_017029607.2:c.7194A>G XP_016885096.1:p.Pro2398=
XM_017029608.2:c.7146A>G XP_016885097.1:p.Pro2382=
XM_017029609.1:c.7110A>G XP_016885098.1:p.Pro2370=
XM_017029610.1:c.7107A>G XP_016885099.1:p.Pro2369=
XM_017029611.1:c.7062A>G XP_016885100.1:p.Pro2354=
XR_001755700.2:n.7727A>G
NM_138270.4:c.7314A>G NP_612114.2:p.Pro2438=
NM_000489.6:c.7428A>G MANE Select NP_000480.3:p.Pro2476=
NM_138270.5:c.7314A>G NP_612114.2:p.Pro2438=