Canonical Allele Identifier: CA413706325

Gene: ATRX

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681743T>G , CM000685.2:g.77681743T>G	GRCh38
NC_000023.10:g.76937235T>G , CM000685.1:g.76937235T>G	GRCh37
NC_000023.9:g.76823891T>G	NCBI36
NG_008838.2:g.109479A>C
NG_008838.3:g.109527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.3513A>C MANE Select	ENSP00000362441.4:p.Arg1171Ser
ENST00000373344.9:c.3513A>C	ENSP00000362441.4:p.Arg1171Ser
ENST00000395603.7:c.3399A>C	ENSP00000378967.3:p.Arg1133Ser
ENST00000480283.5:c.*3141A>C	ENSP00000480196.1:n.*3141A>C
ENST00000493470.2:c.399A>C	ENSP00000485408.1:p.Arg133Ser
ENST00000624166.3:c.3309A>C	ENSP00000485103.1:p.Arg1103Ser
NM_000489.4:c.3513A>C	NP_000480.3:p.Arg1171Ser
NM_138270.3:c.3399A>C	NP_612114.2:p.Arg1133Ser
XM_005262153.3:c.3510A>C	XP_005262210.2:p.Arg1170Ser
XM_005262154.3:c.3426A>C	XP_005262211.2:p.Arg1142Ser
XM_005262155.3:c.3396A>C	XP_005262212.2:p.Arg1132Ser
XM_005262156.3:c.3348A>C	XP_005262213.2:p.Arg1116Ser
XM_005262157.3:c.3309A>C	XP_005262214.2:p.Arg1103Ser
XM_006724666.2:c.3396A>C	XP_006724729.1:p.Arg1132Ser
XM_006724667.2:c.3234A>C	XP_006724730.1:p.Arg1078Ser
XM_006724668.2:c.3513A>C	XP_006724731.1:p.Arg1171Ser
XR_938400.1:n.3781A>C
NM_000489.5:c.3513A>C	NP_000480.3:p.Arg1171Ser
XM_005262153.5:c.3510A>C	XP_005262210.2:p.Arg1170Ser
XM_005262154.5:c.3426A>C	XP_005262211.2:p.Arg1142Ser
XM_005262155.4:c.3396A>C	XP_005262212.2:p.Arg1132Ser
XM_005262156.4:c.3348A>C	XP_005262213.2:p.Arg1116Ser
XM_005262157.5:c.3309A>C	XP_005262214.2:p.Arg1103Ser
XM_006724666.4:c.3396A>C	XP_006724729.1:p.Arg1132Ser
XM_006724667.3:c.3234A>C	XP_006724730.1:p.Arg1078Ser
XM_006724668.3:c.3513A>C	XP_006724731.1:p.Arg1171Ser
XM_017029601.2:c.3423A>C	XP_016885090.1:p.Arg1141Ser
XM_017029602.1:c.3393A>C	XP_016885091.1:p.Arg1131Ser
XM_017029603.1:c.3345A>C	XP_016885092.1:p.Arg1115Ser
XM_017029604.2:c.3312A>C	XP_016885093.1:p.Arg1104Ser
XM_017029605.1:c.3309A>C	XP_016885094.1:p.Arg1103Ser
XM_017029606.2:c.3282A>C	XP_016885095.1:p.Arg1094Ser
XM_017029607.2:c.3279A>C	XP_016885096.1:p.Arg1093Ser
XM_017029608.2:c.3231A>C	XP_016885097.1:p.Arg1077Ser
XM_017029609.1:c.3195A>C	XP_016885098.1:p.Arg1065Ser
XM_017029610.1:c.3192A>C	XP_016885099.1:p.Arg1064Ser
XM_017029611.1:c.3147A>C	XP_016885100.1:p.Arg1049Ser
XR_001755700.2:n.3738A>C
NM_138270.4:c.3399A>C	NP_612114.2:p.Arg1133Ser
NM_000489.6:c.3513A>C MANE Select	NP_000480.3:p.Arg1171Ser
NM_138270.5:c.3399A>C	NP_612114.2:p.Arg1133Ser