Canonical Allele Identifier: CA413711655
Community Standard Title: NM_000489.6(ATRX):c.2571A>T (p.Lys857Asn)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682685T>A , CM000685.2:g.77682685T>A GRCh38
NC_000023.10:g.76938177T>A , CM000685.1:g.76938177T>A GRCh37
NC_000023.9:g.76824833T>A NCBI36
NG_008838.2:g.108537A>T
NG_008838.3:g.108585A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2571A>T MANE Select NP_000480.3:p.Lys857Asn
ENST00000373344.11:c.2571A>T MANE Select ENSP00000362441.4:p.Lys857Asn
NM_000489.4:c.2571A>T NP_000480.3:p.Lys857Asn
NM_000489.5:c.2571A>T NP_000480.3:p.Lys857Asn
NM_138270.3:c.2457A>T NP_612114.2:p.Lys819Asn
NM_138270.4:c.2457A>T NP_612114.2:p.Lys819Asn
NM_138270.5:c.2457A>T NP_612114.2:p.Lys819Asn
ENST00000373344.9:c.2571A>T ENSP00000362441.4:p.Lys857Asn
ENST00000395603.7:c.2457A>T ENSP00000378967.3:p.Lys819Asn
ENST00000480283.5:c.*2199A>T ENSP00000480196.1:n.*2199A>T
ENST00000624032.3:c.2484A>T ENSP00000485253.1:p.Lys828Asn
ENST00000624166.3:c.2367A>T ENSP00000485103.1:p.Lys789Asn
XM_005262153.3:c.2568A>T XP_005262210.2:p.Lys856Asn
XM_005262153.5:c.2568A>T XP_005262210.2:p.Lys856Asn
XM_005262154.3:c.2484A>T XP_005262211.2:p.Lys828Asn
XM_005262154.5:c.2484A>T XP_005262211.2:p.Lys828Asn
XM_005262155.3:c.2454A>T XP_005262212.2:p.Lys818Asn
XM_005262155.4:c.2454A>T XP_005262212.2:p.Lys818Asn
XM_005262156.3:c.2406A>T XP_005262213.2:p.Lys802Asn
XM_005262156.4:c.2406A>T XP_005262213.2:p.Lys802Asn
XM_005262157.3:c.2367A>T XP_005262214.2:p.Lys789Asn
XM_005262157.5:c.2367A>T XP_005262214.2:p.Lys789Asn
XM_006724666.2:c.2454A>T XP_006724729.1:p.Lys818Asn
XM_006724666.4:c.2454A>T XP_006724729.1:p.Lys818Asn
XM_006724667.2:c.2292A>T XP_006724730.1:p.Lys764Asn
XM_006724667.3:c.2292A>T XP_006724730.1:p.Lys764Asn
XM_006724668.2:c.2571A>T XP_006724731.1:p.Lys857Asn
XM_006724668.3:c.2571A>T XP_006724731.1:p.Lys857Asn
XM_017029601.2:c.2481A>T XP_016885090.1:p.Lys827Asn
XM_017029602.1:c.2451A>T XP_016885091.1:p.Lys817Asn
XM_017029603.1:c.2403A>T XP_016885092.1:p.Lys801Asn
XM_017029604.2:c.2370A>T XP_016885093.1:p.Lys790Asn
XM_017029605.1:c.2367A>T XP_016885094.1:p.Lys789Asn
XM_017029606.2:c.2340A>T XP_016885095.1:p.Lys780Asn
XM_017029607.2:c.2337A>T XP_016885096.1:p.Lys779Asn
XM_017029608.2:c.2289A>T XP_016885097.1:p.Lys763Asn
XM_017029609.1:c.2253A>T XP_016885098.1:p.Lys751Asn
XM_017029610.1:c.2250A>T XP_016885099.1:p.Lys750Asn
XM_017029611.1:c.2205A>T XP_016885100.1:p.Lys735Asn
XR_001755700.2:n.2796A>T
XR_938400.1:n.2839A>T