Canonical Allele Identifier: CA413708760

Gene: ATRX

Linked Data

• dbSNP Id: rs782646619
• MyVariant Identifiers: chrX:g.76907795C>G (hg19) ; chrX:g.77652305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652305C>G , CM000685.2:g.77652305C>G	GRCh38
NC_000023.10:g.76907795C>G , CM000685.1:g.76907795C>G	GRCh37
NC_000023.9:g.76794451C>G	NCBI36
NG_008838.2:g.138917G>C
NG_008838.3:g.138965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4366G>C MANE Select	ENSP00000362441.4:p.Glu1456Gln
ENST00000373344.9:c.4366G>C	ENSP00000362441.4:p.Glu1456Gln
ENST00000395603.7:c.4252G>C	ENSP00000378967.3:p.Glu1418Gln
ENST00000480283.5:c.*3994G>C	ENSP00000480196.1:n.*3994G>C
NM_000489.4:c.4366G>C	NP_000480.3:p.Glu1456Gln
NM_138270.3:c.4252G>C	NP_612114.2:p.Glu1418Gln
XM_005262153.3:c.4363G>C	XP_005262210.2:p.Glu1455Gln
XM_005262154.3:c.4279G>C	XP_005262211.2:p.Glu1427Gln
XM_005262155.3:c.4249G>C	XP_005262212.2:p.Glu1417Gln
XM_005262156.3:c.4201G>C	XP_005262213.2:p.Glu1401Gln
XM_005262157.3:c.4162G>C	XP_005262214.2:p.Glu1388Gln
XM_006724666.2:c.4249G>C	XP_006724729.1:p.Glu1417Gln
XM_006724667.2:c.4087G>C	XP_006724730.1:p.Glu1363Gln
XM_006724668.2:c.4366G>C	XP_006724731.1:p.Glu1456Gln
XR_938400.1:n.4634G>C
NM_000489.5:c.4366G>C	NP_000480.3:p.Glu1456Gln
XM_005262153.5:c.4363G>C	XP_005262210.2:p.Glu1455Gln
XM_005262154.5:c.4279G>C	XP_005262211.2:p.Glu1427Gln
XM_005262155.4:c.4249G>C	XP_005262212.2:p.Glu1417Gln
XM_005262156.4:c.4201G>C	XP_005262213.2:p.Glu1401Gln
XM_005262157.5:c.4162G>C	XP_005262214.2:p.Glu1388Gln
XM_006724666.4:c.4249G>C	XP_006724729.1:p.Glu1417Gln
XM_006724667.3:c.4087G>C	XP_006724730.1:p.Glu1363Gln
XM_006724668.3:c.4366G>C	XP_006724731.1:p.Glu1456Gln
XM_017029601.2:c.4276G>C	XP_016885090.1:p.Glu1426Gln
XM_017029602.1:c.4246G>C	XP_016885091.1:p.Glu1416Gln
XM_017029603.1:c.4198G>C	XP_016885092.1:p.Glu1400Gln
XM_017029604.2:c.4165G>C	XP_016885093.1:p.Glu1389Gln
XM_017029605.1:c.4162G>C	XP_016885094.1:p.Glu1388Gln
XM_017029606.2:c.4135G>C	XP_016885095.1:p.Glu1379Gln
XM_017029607.2:c.4132G>C	XP_016885096.1:p.Glu1378Gln
XM_017029608.2:c.4084G>C	XP_016885097.1:p.Glu1362Gln
XM_017029609.1:c.4048G>C	XP_016885098.1:p.Glu1350Gln
XM_017029610.1:c.4045G>C	XP_016885099.1:p.Glu1349Gln
XM_017029611.1:c.4000G>C	XP_016885100.1:p.Glu1334Gln
XR_001755700.2:n.4591G>C
NM_138270.4:c.4252G>C	NP_612114.2:p.Glu1418Gln
NM_000489.6:c.4366G>C MANE Select	NP_000480.3:p.Glu1456Gln
NM_138270.5:c.4252G>C	NP_612114.2:p.Glu1418Gln