Canonical Allele Identifier: CA413703426

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763843C>G (hg19) ; chrX:g.77508365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508365C>G , CM000685.2:g.77508365C>G	GRCh38
NC_000023.10:g.76763843C>G , CM000685.1:g.76763843C>G	GRCh37
NC_000023.9:g.76650499C>G	NCBI36
NG_008838.2:g.282857G>C
NG_008838.3:g.282905G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7465G>C MANE Select	ENSP00000362441.4:p.Gly2489Arg
ENST00000675732.1:c.2563G>C	ENSP00000502598.1:p.Gly855Arg
ENST00000373344.9:c.7465G>C	ENSP00000362441.4:p.Gly2489Arg
ENST00000395603.7:c.7351G>C	ENSP00000378967.3:p.Gly2451Arg
ENST00000480283.5:c.*7093G>C	ENSP00000480196.1:n.*7093G>C
ENST00000623706.3:n.5785G>C
NM_000489.4:c.7465G>C	NP_000480.3:p.Gly2489Arg
NM_138270.3:c.7351G>C	NP_612114.2:p.Gly2451Arg
XM_005262153.3:c.7462G>C	XP_005262210.2:p.Gly2488Arg
XM_005262154.3:c.7378G>C	XP_005262211.2:p.Gly2460Arg
XM_005262155.3:c.7348G>C	XP_005262212.2:p.Gly2450Arg
XM_005262156.3:c.7300G>C	XP_005262213.2:p.Gly2434Arg
XM_005262157.3:c.7261G>C	XP_005262214.2:p.Gly2421Arg
XM_006724666.2:c.7348G>C	XP_006724729.1:p.Gly2450Arg
XM_006724667.2:c.7186G>C	XP_006724730.1:p.Gly2396Arg
XR_938400.1:n.9057G>C
NM_000489.5:c.7465G>C	NP_000480.3:p.Gly2489Arg
XM_005262153.5:c.7462G>C	XP_005262210.2:p.Gly2488Arg
XM_005262154.5:c.7378G>C	XP_005262211.2:p.Gly2460Arg
XM_005262155.4:c.7348G>C	XP_005262212.2:p.Gly2450Arg
XM_005262156.4:c.7300G>C	XP_005262213.2:p.Gly2434Arg
XM_005262157.5:c.7261G>C	XP_005262214.2:p.Gly2421Arg
XM_006724666.4:c.7348G>C	XP_006724729.1:p.Gly2450Arg
XM_006724667.3:c.7186G>C	XP_006724730.1:p.Gly2396Arg
XM_017029601.2:c.7375G>C	XP_016885090.1:p.Gly2459Arg
XM_017029602.1:c.7345G>C	XP_016885091.1:p.Gly2449Arg
XM_017029603.1:c.7297G>C	XP_016885092.1:p.Gly2433Arg
XM_017029604.2:c.7264G>C	XP_016885093.1:p.Gly2422Arg
XM_017029605.1:c.7261G>C	XP_016885094.1:p.Gly2421Arg
XM_017029606.2:c.7234G>C	XP_016885095.1:p.Gly2412Arg
XM_017029607.2:c.7231G>C	XP_016885096.1:p.Gly2411Arg
XM_017029608.2:c.7183G>C	XP_016885097.1:p.Gly2395Arg
XM_017029609.1:c.7147G>C	XP_016885098.1:p.Gly2383Arg
XM_017029610.1:c.7144G>C	XP_016885099.1:p.Gly2382Arg
XM_017029611.1:c.7099G>C	XP_016885100.1:p.Gly2367Arg
XR_001755700.2:n.7764G>C
NM_138270.4:c.7351G>C	NP_612114.2:p.Gly2451Arg
NM_000489.6:c.7465G>C MANE Select	NP_000480.3:p.Gly2489Arg
NM_138270.5:c.7351G>C	NP_612114.2:p.Gly2451Arg