Canonical Allele Identifier: CA10458037
Community Standard Title: NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682512C>G , CM000685.2:g.77682512C>G GRCh38
NC_000023.10:g.76938004C>G , CM000685.1:g.76938004C>G GRCh37
NC_000023.9:g.76824660C>G NCBI36
NG_008838.2:g.108710G>C
NG_008838.3:g.108758G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2744G>C MANE Select NP_000480.3:p.Ser915Thr
ENST00000373344.11:c.2744G>C MANE Select ENSP00000362441.4:p.Ser915Thr
NM_000489.4:c.2744G>C NP_000480.3:p.Ser915Thr
NM_000489.5:c.2744G>C NP_000480.3:p.Ser915Thr
NM_138270.3:c.2630G>C NP_612114.2:p.Ser877Thr
NM_138270.4:c.2630G>C NP_612114.2:p.Ser877Thr
NM_138270.5:c.2630G>C NP_612114.2:p.Ser877Thr
ENST00000373344.9:c.2744G>C ENSP00000362441.4:p.Ser915Thr
ENST00000395603.7:c.2630G>C ENSP00000378967.3:p.Ser877Thr
ENST00000480283.5:c.*2372G>C ENSP00000480196.1:n.*2372G>C
ENST00000624032.3:c.2657G>C ENSP00000485253.1:p.Ser886Thr
ENST00000624166.3:c.2540G>C ENSP00000485103.1:p.Ser847Thr
XM_005262153.3:c.2741G>C XP_005262210.2:p.Ser914Thr
XM_005262153.5:c.2741G>C XP_005262210.2:p.Ser914Thr
XM_005262154.3:c.2657G>C XP_005262211.2:p.Ser886Thr
XM_005262154.5:c.2657G>C XP_005262211.2:p.Ser886Thr
XM_005262155.3:c.2627G>C XP_005262212.2:p.Ser876Thr
XM_005262155.4:c.2627G>C XP_005262212.2:p.Ser876Thr
XM_005262156.3:c.2579G>C XP_005262213.2:p.Ser860Thr
XM_005262156.4:c.2579G>C XP_005262213.2:p.Ser860Thr
XM_005262157.3:c.2540G>C XP_005262214.2:p.Ser847Thr
XM_005262157.5:c.2540G>C XP_005262214.2:p.Ser847Thr
XM_006724666.2:c.2627G>C XP_006724729.1:p.Ser876Thr
XM_006724666.4:c.2627G>C XP_006724729.1:p.Ser876Thr
XM_006724667.2:c.2465G>C XP_006724730.1:p.Ser822Thr
XM_006724667.3:c.2465G>C XP_006724730.1:p.Ser822Thr
XM_006724668.2:c.2744G>C XP_006724731.1:p.Ser915Thr
XM_006724668.3:c.2744G>C XP_006724731.1:p.Ser915Thr
XM_017029601.2:c.2654G>C XP_016885090.1:p.Ser885Thr
XM_017029602.1:c.2624G>C XP_016885091.1:p.Ser875Thr
XM_017029603.1:c.2576G>C XP_016885092.1:p.Ser859Thr
XM_017029604.2:c.2543G>C XP_016885093.1:p.Ser848Thr
XM_017029605.1:c.2540G>C XP_016885094.1:p.Ser847Thr
XM_017029606.2:c.2513G>C XP_016885095.1:p.Ser838Thr
XM_017029607.2:c.2510G>C XP_016885096.1:p.Ser837Thr
XM_017029608.2:c.2462G>C XP_016885097.1:p.Ser821Thr
XM_017029609.1:c.2426G>C XP_016885098.1:p.Ser809Thr
XM_017029610.1:c.2423G>C XP_016885099.1:p.Ser808Thr
XM_017029611.1:c.2378G>C XP_016885100.1:p.Ser793Thr
XR_001755700.2:n.2969G>C
XR_938400.1:n.3012G>C