Canonical Allele Identifier: CA413708421

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907748C>G (hg19) ; chrX:g.77652258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652258C>G , CM000685.2:g.77652258C>G	GRCh38
NC_000023.10:g.76907748C>G , CM000685.1:g.76907748C>G	GRCh37
NC_000023.9:g.76794404C>G	NCBI36
NG_008838.2:g.138964G>C
NG_008838.3:g.139012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4413G>C MANE Select	ENSP00000362441.4:p.Lys1471Asn
ENST00000373344.9:c.4413G>C	ENSP00000362441.4:p.Lys1471Asn
ENST00000395603.7:c.4299G>C	ENSP00000378967.3:p.Lys1433Asn
ENST00000480283.5:c.*4041G>C	ENSP00000480196.1:n.*4041G>C
ENST00000623242.3:c.19G>C
NM_000489.4:c.4413G>C	NP_000480.3:p.Lys1471Asn
NM_138270.3:c.4299G>C	NP_612114.2:p.Lys1433Asn
XM_005262153.3:c.4410G>C	XP_005262210.2:p.Lys1470Asn
XM_005262154.3:c.4326G>C	XP_005262211.2:p.Lys1442Asn
XM_005262155.3:c.4296G>C	XP_005262212.2:p.Lys1432Asn
XM_005262156.3:c.4248G>C	XP_005262213.2:p.Lys1416Asn
XM_005262157.3:c.4209G>C	XP_005262214.2:p.Lys1403Asn
XM_006724666.2:c.4296G>C	XP_006724729.1:p.Lys1432Asn
XM_006724667.2:c.4134G>C	XP_006724730.1:p.Lys1378Asn
XM_006724668.2:c.4413G>C	XP_006724731.1:p.Lys1471Asn
XR_938400.1:n.4681G>C
NM_000489.5:c.4413G>C	NP_000480.3:p.Lys1471Asn
XM_005262153.5:c.4410G>C	XP_005262210.2:p.Lys1470Asn
XM_005262154.5:c.4326G>C	XP_005262211.2:p.Lys1442Asn
XM_005262155.4:c.4296G>C	XP_005262212.2:p.Lys1432Asn
XM_005262156.4:c.4248G>C	XP_005262213.2:p.Lys1416Asn
XM_005262157.5:c.4209G>C	XP_005262214.2:p.Lys1403Asn
XM_006724666.4:c.4296G>C	XP_006724729.1:p.Lys1432Asn
XM_006724667.3:c.4134G>C	XP_006724730.1:p.Lys1378Asn
XM_006724668.3:c.4413G>C	XP_006724731.1:p.Lys1471Asn
XM_017029601.2:c.4323G>C	XP_016885090.1:p.Lys1441Asn
XM_017029602.1:c.4293G>C	XP_016885091.1:p.Lys1431Asn
XM_017029603.1:c.4245G>C	XP_016885092.1:p.Lys1415Asn
XM_017029604.2:c.4212G>C	XP_016885093.1:p.Lys1404Asn
XM_017029605.1:c.4209G>C	XP_016885094.1:p.Lys1403Asn
XM_017029606.2:c.4182G>C	XP_016885095.1:p.Lys1394Asn
XM_017029607.2:c.4179G>C	XP_016885096.1:p.Lys1393Asn
XM_017029608.2:c.4131G>C	XP_016885097.1:p.Lys1377Asn
XM_017029609.1:c.4095G>C	XP_016885098.1:p.Lys1365Asn
XM_017029610.1:c.4092G>C	XP_016885099.1:p.Lys1364Asn
XM_017029611.1:c.4047G>C	XP_016885100.1:p.Lys1349Asn
XR_001755700.2:n.4638G>C
NM_138270.4:c.4299G>C	NP_612114.2:p.Lys1433Asn
NM_000489.6:c.4413G>C MANE Select	NP_000480.3:p.Lys1471Asn
NM_138270.5:c.4299G>C	NP_612114.2:p.Lys1433Asn