Canonical Allele Identifier: CA915951264
Community Standard Title: NM_000489.6(ATRX):c.4957-4A>G
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77633388T>C , CM000685.2:g.77633388T>C GRCh38
NC_000023.10:g.76888876T>C , CM000685.1:g.76888876T>C GRCh37
NC_000023.9:g.76775532T>C NCBI36
NG_008838.2:g.157834A>G
NG_008838.3:g.157882A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.4957-4A>G MANE Select NP_000480.3:n.4957-4A>G
ENST00000373344.11:c.4957-4A>G MANE Select ENSP00000362441.4:n.4957-4A>G
NM_000489.4:c.4957-4A>G NP_000480.3:n.4957-4A>G
NM_000489.5:c.4957-4A>G NP_000480.3:n.4957-4A>G
NM_138270.3:c.4843-4A>G NP_612114.2:n.4843-4A>G
NM_138270.4:c.4843-4A>G NP_612114.2:n.4843-4A>G
NM_138270.5:c.4843-4A>G NP_612114.2:n.4843-4A>G
ENST00000373344.9:c.4957-4A>G ENSP00000362441.4:n.4957-4A>G
ENST00000395603.7:c.4843-4A>G ENSP00000378967.3:n.4843-4A>G
ENST00000480283.5:c.*4585-4A>G ENSP00000480196.1:n.*4585-4A>G
ENST00000623242.3:c.694-4A>G
ENST00000624403.1:n.301-4A>G
ENST00000675732.1:c.55-4A>G ENSP00000502598.1:n.55-4A>G
ENST00000675908.1:n.692-4A>G
XM_005262153.3:c.4954-4A>G XP_005262210.2:n.4954-4A>G
XM_005262153.5:c.4954-4A>G XP_005262210.2:n.4954-4A>G
XM_005262154.3:c.4870-4A>G XP_005262211.2:n.4870-4A>G
XM_005262154.5:c.4870-4A>G XP_005262211.2:n.4870-4A>G
XM_005262155.3:c.4840-4A>G XP_005262212.2:n.4840-4A>G
XM_005262155.4:c.4840-4A>G XP_005262212.2:n.4840-4A>G
XM_005262156.3:c.4792-4A>G XP_005262213.2:n.4792-4A>G
XM_005262156.4:c.4792-4A>G XP_005262213.2:n.4792-4A>G
XM_005262157.3:c.4753-4A>G XP_005262214.2:n.4753-4A>G
XM_005262157.5:c.4753-4A>G XP_005262214.2:n.4753-4A>G
XM_006724666.2:c.4840-4A>G XP_006724729.1:n.4840-4A>G
XM_006724666.4:c.4840-4A>G XP_006724729.1:n.4840-4A>G
XM_006724667.2:c.4678-4A>G XP_006724730.1:n.4678-4A>G
XM_006724667.3:c.4678-4A>G XP_006724730.1:n.4678-4A>G
XM_006724668.2:c.4957-4A>G XP_006724731.1:n.4957-4A>G
XM_006724668.3:c.4957-4A>G XP_006724731.1:n.4957-4A>G
XM_017029601.2:c.4867-4A>G XP_016885090.1:n.4867-4A>G
XM_017029602.1:c.4837-4A>G XP_016885091.1:n.4837-4A>G
XM_017029603.1:c.4789-4A>G XP_016885092.1:n.4789-4A>G
XM_017029604.2:c.4756-4A>G XP_016885093.1:n.4756-4A>G
XM_017029605.1:c.4753-4A>G XP_016885094.1:n.4753-4A>G
XM_017029606.2:c.4726-4A>G XP_016885095.1:n.4726-4A>G
XM_017029607.2:c.4723-4A>G XP_016885096.1:n.4723-4A>G
XM_017029608.2:c.4675-4A>G XP_016885097.1:n.4675-4A>G
XM_017029609.1:c.4639-4A>G XP_016885098.1:n.4639-4A>G
XM_017029610.1:c.4636-4A>G XP_016885099.1:n.4636-4A>G
XM_017029611.1:c.4591-4A>G XP_016885100.1:n.4591-4A>G
XR_001755700.2:n.5182-4A>G
XR_938400.1:n.5225-4A>G