Canonical Allele Identifier: CA413708171

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907695A>G (hg19) ; chrX:g.77652205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652205A>G , CM000685.2:g.77652205A>G	GRCh38
NC_000023.10:g.76907695A>G , CM000685.1:g.76907695A>G	GRCh37
NC_000023.9:g.76794351A>G	NCBI36
NG_008838.2:g.139017T>C
NG_008838.3:g.139065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4466T>C MANE Select	ENSP00000362441.4:p.Leu1489Pro
ENST00000373344.9:c.4466T>C	ENSP00000362441.4:p.Leu1489Pro
ENST00000395603.7:c.4352T>C	ENSP00000378967.3:p.Leu1451Pro
ENST00000480283.5:c.*4094T>C	ENSP00000480196.1:n.*4094T>C
ENST00000623242.3:c.72T>C
NM_000489.4:c.4466T>C	NP_000480.3:p.Leu1489Pro
NM_138270.3:c.4352T>C	NP_612114.2:p.Leu1451Pro
XM_005262153.3:c.4463T>C	XP_005262210.2:p.Leu1488Pro
XM_005262154.3:c.4379T>C	XP_005262211.2:p.Leu1460Pro
XM_005262155.3:c.4349T>C	XP_005262212.2:p.Leu1450Pro
XM_005262156.3:c.4301T>C	XP_005262213.2:p.Leu1434Pro
XM_005262157.3:c.4262T>C	XP_005262214.2:p.Leu1421Pro
XM_006724666.2:c.4349T>C	XP_006724729.1:p.Leu1450Pro
XM_006724667.2:c.4187T>C	XP_006724730.1:p.Leu1396Pro
XM_006724668.2:c.4466T>C	XP_006724731.1:p.Leu1489Pro
XR_938400.1:n.4734T>C
NM_000489.5:c.4466T>C	NP_000480.3:p.Leu1489Pro
XM_005262153.5:c.4463T>C	XP_005262210.2:p.Leu1488Pro
XM_005262154.5:c.4379T>C	XP_005262211.2:p.Leu1460Pro
XM_005262155.4:c.4349T>C	XP_005262212.2:p.Leu1450Pro
XM_005262156.4:c.4301T>C	XP_005262213.2:p.Leu1434Pro
XM_005262157.5:c.4262T>C	XP_005262214.2:p.Leu1421Pro
XM_006724666.4:c.4349T>C	XP_006724729.1:p.Leu1450Pro
XM_006724667.3:c.4187T>C	XP_006724730.1:p.Leu1396Pro
XM_006724668.3:c.4466T>C	XP_006724731.1:p.Leu1489Pro
XM_017029601.2:c.4376T>C	XP_016885090.1:p.Leu1459Pro
XM_017029602.1:c.4346T>C	XP_016885091.1:p.Leu1449Pro
XM_017029603.1:c.4298T>C	XP_016885092.1:p.Leu1433Pro
XM_017029604.2:c.4265T>C	XP_016885093.1:p.Leu1422Pro
XM_017029605.1:c.4262T>C	XP_016885094.1:p.Leu1421Pro
XM_017029606.2:c.4235T>C	XP_016885095.1:p.Leu1412Pro
XM_017029607.2:c.4232T>C	XP_016885096.1:p.Leu1411Pro
XM_017029608.2:c.4184T>C	XP_016885097.1:p.Leu1395Pro
XM_017029609.1:c.4148T>C	XP_016885098.1:p.Leu1383Pro
XM_017029610.1:c.4145T>C	XP_016885099.1:p.Leu1382Pro
XM_017029611.1:c.4100T>C	XP_016885100.1:p.Leu1367Pro
XR_001755700.2:n.4691T>C
NM_138270.4:c.4352T>C	NP_612114.2:p.Leu1451Pro
NM_000489.6:c.4466T>C MANE Select	NP_000480.3:p.Leu1489Pro
NM_138270.5:c.4352T>C	NP_612114.2:p.Leu1451Pro