Canonical Allele Identifier: CA10458005
Community Standard Title: NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682243T>C , CM000685.2:g.77682243T>C GRCh38
NC_000023.10:g.76937735T>C , CM000685.1:g.76937735T>C GRCh37
NC_000023.9:g.76824391T>C NCBI36
NG_008838.2:g.108979A>G
NG_008838.3:g.109027A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.3013A>G MANE Select NP_000480.3:p.Met1005Val
ENST00000373344.11:c.3013A>G MANE Select ENSP00000362441.4:p.Met1005Val
NM_000489.4:c.3013A>G NP_000480.3:p.Met1005Val
NM_000489.5:c.3013A>G NP_000480.3:p.Met1005Val
NM_138270.3:c.2899A>G NP_612114.2:p.Met967Val
NM_138270.4:c.2899A>G NP_612114.2:p.Met967Val
NM_138270.5:c.2899A>G NP_612114.2:p.Met967Val
ENST00000373344.9:c.3013A>G ENSP00000362441.4:p.Met1005Val
ENST00000395603.7:c.2899A>G ENSP00000378967.3:p.Met967Val
ENST00000480283.5:c.*2641A>G ENSP00000480196.1:n.*2641A>G
ENST00000624166.3:c.2809A>G ENSP00000485103.1:p.Met937Val
XM_005262153.3:c.3010A>G XP_005262210.2:p.Met1004Val
XM_005262153.5:c.3010A>G XP_005262210.2:p.Met1004Val
XM_005262154.3:c.2926A>G XP_005262211.2:p.Met976Val
XM_005262154.5:c.2926A>G XP_005262211.2:p.Met976Val
XM_005262155.3:c.2896A>G XP_005262212.2:p.Met966Val
XM_005262155.4:c.2896A>G XP_005262212.2:p.Met966Val
XM_005262156.3:c.2848A>G XP_005262213.2:p.Met950Val
XM_005262156.4:c.2848A>G XP_005262213.2:p.Met950Val
XM_005262157.3:c.2809A>G XP_005262214.2:p.Met937Val
XM_005262157.5:c.2809A>G XP_005262214.2:p.Met937Val
XM_006724666.2:c.2896A>G XP_006724729.1:p.Met966Val
XM_006724666.4:c.2896A>G XP_006724729.1:p.Met966Val
XM_006724667.2:c.2734A>G XP_006724730.1:p.Met912Val
XM_006724667.3:c.2734A>G XP_006724730.1:p.Met912Val
XM_006724668.2:c.3013A>G XP_006724731.1:p.Met1005Val
XM_006724668.3:c.3013A>G XP_006724731.1:p.Met1005Val
XM_017029601.2:c.2923A>G XP_016885090.1:p.Met975Val
XM_017029602.1:c.2893A>G XP_016885091.1:p.Met965Val
XM_017029603.1:c.2845A>G XP_016885092.1:p.Met949Val
XM_017029604.2:c.2812A>G XP_016885093.1:p.Met938Val
XM_017029605.1:c.2809A>G XP_016885094.1:p.Met937Val
XM_017029606.2:c.2782A>G XP_016885095.1:p.Met928Val
XM_017029607.2:c.2779A>G XP_016885096.1:p.Met927Val
XM_017029608.2:c.2731A>G XP_016885097.1:p.Met911Val
XM_017029609.1:c.2695A>G XP_016885098.1:p.Met899Val
XM_017029610.1:c.2692A>G XP_016885099.1:p.Met898Val
XM_017029611.1:c.2647A>G XP_016885100.1:p.Met883Val
XR_001755700.2:n.3238A>G
XR_938400.1:n.3281A>G