Canonical Allele Identifier: CA413701186
Community Standard Title: NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77618973T>C , CM000685.2:g.77618973T>C GRCh38
NC_000023.10:g.76874441T>C , CM000685.1:g.76874441T>C GRCh37
NC_000023.9:g.76761097T>C NCBI36
NG_008838.2:g.172249A>G
NG_008838.3:g.172297A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.5281A>G MANE Select NP_000480.3:p.Met1761Val
ENST00000373344.11:c.5281A>G MANE Select ENSP00000362441.4:p.Met1761Val
NM_000489.4:c.5281A>G NP_000480.3:p.Met1761Val
NM_000489.5:c.5281A>G NP_000480.3:p.Met1761Val
NM_138270.3:c.5167A>G NP_612114.2:p.Met1723Val
NM_138270.4:c.5167A>G NP_612114.2:p.Met1723Val
NM_138270.5:c.5167A>G NP_612114.2:p.Met1723Val
ENST00000373344.9:c.5281A>G ENSP00000362441.4:p.Met1761Val
ENST00000395603.7:c.5167A>G ENSP00000378967.3:p.Met1723Val
ENST00000400866.4:c.262A>G ENSP00000383663.3:p.Met88Val
ENST00000480283.5:c.*4909A>G ENSP00000480196.1:n.*4909A>G
ENST00000675732.1:c.379A>G ENSP00000502598.1:p.Met127Val
ENST00000675908.1:n.1016A>G
XM_005262153.3:c.5278A>G XP_005262210.2:p.Met1760Val
XM_005262153.5:c.5278A>G XP_005262210.2:p.Met1760Val
XM_005262154.3:c.5194A>G XP_005262211.2:p.Met1732Val
XM_005262154.5:c.5194A>G XP_005262211.2:p.Met1732Val
XM_005262155.3:c.5164A>G XP_005262212.2:p.Met1722Val
XM_005262155.4:c.5164A>G XP_005262212.2:p.Met1722Val
XM_005262156.3:c.5116A>G XP_005262213.2:p.Met1706Val
XM_005262156.4:c.5116A>G XP_005262213.2:p.Met1706Val
XM_005262157.3:c.5077A>G XP_005262214.2:p.Met1693Val
XM_005262157.5:c.5077A>G XP_005262214.2:p.Met1693Val
XM_006724666.2:c.5164A>G XP_006724729.1:p.Met1722Val
XM_006724666.4:c.5164A>G XP_006724729.1:p.Met1722Val
XM_006724667.2:c.5002A>G XP_006724730.1:p.Met1668Val
XM_006724667.3:c.5002A>G XP_006724730.1:p.Met1668Val
XM_006724668.2:c.5281A>G XP_006724731.1:p.Met1761Val
XM_006724668.3:c.5281A>G XP_006724731.1:p.Met1761Val
XM_017029601.2:c.5191A>G XP_016885090.1:p.Met1731Val
XM_017029602.1:c.5161A>G XP_016885091.1:p.Met1721Val
XM_017029603.1:c.5113A>G XP_016885092.1:p.Met1705Val
XM_017029604.2:c.5080A>G XP_016885093.1:p.Met1694Val
XM_017029605.1:c.5077A>G XP_016885094.1:p.Met1693Val
XM_017029606.2:c.5050A>G XP_016885095.1:p.Met1684Val
XM_017029607.2:c.5047A>G XP_016885096.1:p.Met1683Val
XM_017029608.2:c.4999A>G XP_016885097.1:p.Met1667Val
XM_017029609.1:c.4963A>G XP_016885098.1:p.Met1655Val
XM_017029610.1:c.4960A>G XP_016885099.1:p.Met1654Val
XM_017029611.1:c.4915A>G XP_016885100.1:p.Met1639Val
XR_001755700.2:n.5506A>G
XR_938400.1:n.5549A>G