Canonical Allele Identifier: CA413708286

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437736
• MyVariant Identifiers: chrX:g.76907722A>C (hg19) ; chrX:g.77652232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652232A>C , CM000685.2:g.77652232A>C	GRCh38
NC_000023.10:g.76907722A>C , CM000685.1:g.76907722A>C	GRCh37
NC_000023.9:g.76794378A>C	NCBI36
NG_008838.2:g.138990T>G
NG_008838.3:g.139038T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4439T>G MANE Select	ENSP00000362441.4:p.Ile1480Ser
ENST00000373344.9:c.4439T>G	ENSP00000362441.4:p.Ile1480Ser
ENST00000395603.7:c.4325T>G	ENSP00000378967.3:p.Ile1442Ser
ENST00000480283.5:c.*4067T>G	ENSP00000480196.1:n.*4067T>G
ENST00000623242.3:c.45T>G
NM_000489.4:c.4439T>G	NP_000480.3:p.Ile1480Ser
NM_138270.3:c.4325T>G	NP_612114.2:p.Ile1442Ser
XM_005262153.3:c.4436T>G	XP_005262210.2:p.Ile1479Ser
XM_005262154.3:c.4352T>G	XP_005262211.2:p.Ile1451Ser
XM_005262155.3:c.4322T>G	XP_005262212.2:p.Ile1441Ser
XM_005262156.3:c.4274T>G	XP_005262213.2:p.Ile1425Ser
XM_005262157.3:c.4235T>G	XP_005262214.2:p.Ile1412Ser
XM_006724666.2:c.4322T>G	XP_006724729.1:p.Ile1441Ser
XM_006724667.2:c.4160T>G	XP_006724730.1:p.Ile1387Ser
XM_006724668.2:c.4439T>G	XP_006724731.1:p.Ile1480Ser
XR_938400.1:n.4707T>G
NM_000489.5:c.4439T>G	NP_000480.3:p.Ile1480Ser
XM_005262153.5:c.4436T>G	XP_005262210.2:p.Ile1479Ser
XM_005262154.5:c.4352T>G	XP_005262211.2:p.Ile1451Ser
XM_005262155.4:c.4322T>G	XP_005262212.2:p.Ile1441Ser
XM_005262156.4:c.4274T>G	XP_005262213.2:p.Ile1425Ser
XM_005262157.5:c.4235T>G	XP_005262214.2:p.Ile1412Ser
XM_006724666.4:c.4322T>G	XP_006724729.1:p.Ile1441Ser
XM_006724667.3:c.4160T>G	XP_006724730.1:p.Ile1387Ser
XM_006724668.3:c.4439T>G	XP_006724731.1:p.Ile1480Ser
XM_017029601.2:c.4349T>G	XP_016885090.1:p.Ile1450Ser
XM_017029602.1:c.4319T>G	XP_016885091.1:p.Ile1440Ser
XM_017029603.1:c.4271T>G	XP_016885092.1:p.Ile1424Ser
XM_017029604.2:c.4238T>G	XP_016885093.1:p.Ile1413Ser
XM_017029605.1:c.4235T>G	XP_016885094.1:p.Ile1412Ser
XM_017029606.2:c.4208T>G	XP_016885095.1:p.Ile1403Ser
XM_017029607.2:c.4205T>G	XP_016885096.1:p.Ile1402Ser
XM_017029608.2:c.4157T>G	XP_016885097.1:p.Ile1386Ser
XM_017029609.1:c.4121T>G	XP_016885098.1:p.Ile1374Ser
XM_017029610.1:c.4118T>G	XP_016885099.1:p.Ile1373Ser
XM_017029611.1:c.4073T>G	XP_016885100.1:p.Ile1358Ser
XR_001755700.2:n.4664T>G
NM_138270.4:c.4325T>G	NP_612114.2:p.Ile1442Ser
NM_000489.6:c.4439T>G MANE Select	NP_000480.3:p.Ile1480Ser
NM_138270.5:c.4325T>G	NP_612114.2:p.Ile1442Ser