Canonical Allele Identifier: CA413708224

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437389
• MyVariant Identifiers: chrX:g.76907705C>G (hg19) ; chrX:g.77652215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652215C>G , CM000685.2:g.77652215C>G	GRCh38
NC_000023.10:g.76907705C>G , CM000685.1:g.76907705C>G	GRCh37
NC_000023.9:g.76794361C>G	NCBI36
NG_008838.2:g.139007G>C
NG_008838.3:g.139055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4456G>C MANE Select	ENSP00000362441.4:p.Asp1486His
ENST00000373344.9:c.4456G>C	ENSP00000362441.4:p.Asp1486His
ENST00000395603.7:c.4342G>C	ENSP00000378967.3:p.Asp1448His
ENST00000480283.5:c.*4084G>C	ENSP00000480196.1:n.*4084G>C
ENST00000623242.3:c.62G>C
NM_000489.4:c.4456G>C	NP_000480.3:p.Asp1486His
NM_138270.3:c.4342G>C	NP_612114.2:p.Asp1448His
XM_005262153.3:c.4453G>C	XP_005262210.2:p.Asp1485His
XM_005262154.3:c.4369G>C	XP_005262211.2:p.Asp1457His
XM_005262155.3:c.4339G>C	XP_005262212.2:p.Asp1447His
XM_005262156.3:c.4291G>C	XP_005262213.2:p.Asp1431His
XM_005262157.3:c.4252G>C	XP_005262214.2:p.Asp1418His
XM_006724666.2:c.4339G>C	XP_006724729.1:p.Asp1447His
XM_006724667.2:c.4177G>C	XP_006724730.1:p.Asp1393His
XM_006724668.2:c.4456G>C	XP_006724731.1:p.Asp1486His
XR_938400.1:n.4724G>C
NM_000489.5:c.4456G>C	NP_000480.3:p.Asp1486His
XM_005262153.5:c.4453G>C	XP_005262210.2:p.Asp1485His
XM_005262154.5:c.4369G>C	XP_005262211.2:p.Asp1457His
XM_005262155.4:c.4339G>C	XP_005262212.2:p.Asp1447His
XM_005262156.4:c.4291G>C	XP_005262213.2:p.Asp1431His
XM_005262157.5:c.4252G>C	XP_005262214.2:p.Asp1418His
XM_006724666.4:c.4339G>C	XP_006724729.1:p.Asp1447His
XM_006724667.3:c.4177G>C	XP_006724730.1:p.Asp1393His
XM_006724668.3:c.4456G>C	XP_006724731.1:p.Asp1486His
XM_017029601.2:c.4366G>C	XP_016885090.1:p.Asp1456His
XM_017029602.1:c.4336G>C	XP_016885091.1:p.Asp1446His
XM_017029603.1:c.4288G>C	XP_016885092.1:p.Asp1430His
XM_017029604.2:c.4255G>C	XP_016885093.1:p.Asp1419His
XM_017029605.1:c.4252G>C	XP_016885094.1:p.Asp1418His
XM_017029606.2:c.4225G>C	XP_016885095.1:p.Asp1409His
XM_017029607.2:c.4222G>C	XP_016885096.1:p.Asp1408His
XM_017029608.2:c.4174G>C	XP_016885097.1:p.Asp1392His
XM_017029609.1:c.4138G>C	XP_016885098.1:p.Asp1380His
XM_017029610.1:c.4135G>C	XP_016885099.1:p.Asp1379His
XM_017029611.1:c.4090G>C	XP_016885100.1:p.Asp1364His
XR_001755700.2:n.4681G>C
NM_138270.4:c.4342G>C	NP_612114.2:p.Asp1448His
NM_000489.6:c.4456G>C MANE Select	NP_000480.3:p.Asp1486His
NM_138270.5:c.4342G>C	NP_612114.2:p.Asp1448His