Canonical Allele Identifier: CA331567533

Gene: ATRX

Linked Data

• dbSNP Id: rs986067668
• MyVariant Identifiers: chrX:g.76907737T>G (hg19) ; chrX:g.77652247T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652247T>G , CM000685.2:g.77652247T>G	GRCh38
NC_000023.10:g.76907737T>G , CM000685.1:g.76907737T>G	GRCh37
NC_000023.9:g.76794393T>G	NCBI36
NG_008838.2:g.138975A>C
NG_008838.3:g.139023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4424A>C MANE Select	ENSP00000362441.4:p.Lys1475Thr
ENST00000373344.9:c.4424A>C	ENSP00000362441.4:p.Lys1475Thr
ENST00000395603.7:c.4310A>C	ENSP00000378967.3:p.Lys1437Thr
ENST00000480283.5:c.*4052A>C	ENSP00000480196.1:n.*4052A>C
ENST00000623242.3:c.30A>C
NM_000489.4:c.4424A>C	NP_000480.3:p.Lys1475Thr
NM_138270.3:c.4310A>C	NP_612114.2:p.Lys1437Thr
XM_005262153.3:c.4421A>C	XP_005262210.2:p.Lys1474Thr
XM_005262154.3:c.4337A>C	XP_005262211.2:p.Lys1446Thr
XM_005262155.3:c.4307A>C	XP_005262212.2:p.Lys1436Thr
XM_005262156.3:c.4259A>C	XP_005262213.2:p.Lys1420Thr
XM_005262157.3:c.4220A>C	XP_005262214.2:p.Lys1407Thr
XM_006724666.2:c.4307A>C	XP_006724729.1:p.Lys1436Thr
XM_006724667.2:c.4145A>C	XP_006724730.1:p.Lys1382Thr
XM_006724668.2:c.4424A>C	XP_006724731.1:p.Lys1475Thr
XR_938400.1:n.4692A>C
NM_000489.5:c.4424A>C	NP_000480.3:p.Lys1475Thr
XM_005262153.5:c.4421A>C	XP_005262210.2:p.Lys1474Thr
XM_005262154.5:c.4337A>C	XP_005262211.2:p.Lys1446Thr
XM_005262155.4:c.4307A>C	XP_005262212.2:p.Lys1436Thr
XM_005262156.4:c.4259A>C	XP_005262213.2:p.Lys1420Thr
XM_005262157.5:c.4220A>C	XP_005262214.2:p.Lys1407Thr
XM_006724666.4:c.4307A>C	XP_006724729.1:p.Lys1436Thr
XM_006724667.3:c.4145A>C	XP_006724730.1:p.Lys1382Thr
XM_006724668.3:c.4424A>C	XP_006724731.1:p.Lys1475Thr
XM_017029601.2:c.4334A>C	XP_016885090.1:p.Lys1445Thr
XM_017029602.1:c.4304A>C	XP_016885091.1:p.Lys1435Thr
XM_017029603.1:c.4256A>C	XP_016885092.1:p.Lys1419Thr
XM_017029604.2:c.4223A>C	XP_016885093.1:p.Lys1408Thr
XM_017029605.1:c.4220A>C	XP_016885094.1:p.Lys1407Thr
XM_017029606.2:c.4193A>C	XP_016885095.1:p.Lys1398Thr
XM_017029607.2:c.4190A>C	XP_016885096.1:p.Lys1397Thr
XM_017029608.2:c.4142A>C	XP_016885097.1:p.Lys1381Thr
XM_017029609.1:c.4106A>C	XP_016885098.1:p.Lys1369Thr
XM_017029610.1:c.4103A>C	XP_016885099.1:p.Lys1368Thr
XM_017029611.1:c.4058A>C	XP_016885100.1:p.Lys1353Thr
XR_001755700.2:n.4649A>C
NM_138270.4:c.4310A>C	NP_612114.2:p.Lys1437Thr
NM_000489.6:c.4424A>C MANE Select	NP_000480.3:p.Lys1475Thr
NM_138270.5:c.4310A>C	NP_612114.2:p.Lys1437Thr