Canonical Allele Identifier: CA413703416

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7465G>T MANE Select	ENSP00000362441.4:p.Gly2489Trp
ENST00000675732.1:c.2563G>T	ENSP00000502598.1:p.Gly855Trp
ENST00000373344.9:c.7465G>T	ENSP00000362441.4:p.Gly2489Trp
ENST00000395603.7:c.7351G>T	ENSP00000378967.3:p.Gly2451Trp
ENST00000480283.5:c.*7093G>T	ENSP00000480196.1:n.*7093G>T
ENST00000623706.3:n.5785G>T
NM_000489.4:c.7465G>T	NP_000480.3:p.Gly2489Trp
NM_138270.3:c.7351G>T	NP_612114.2:p.Gly2451Trp
XM_005262153.3:c.7462G>T	XP_005262210.2:p.Gly2488Trp
XM_005262154.3:c.7378G>T	XP_005262211.2:p.Gly2460Trp
XM_005262155.3:c.7348G>T	XP_005262212.2:p.Gly2450Trp
XM_005262156.3:c.7300G>T	XP_005262213.2:p.Gly2434Trp
XM_005262157.3:c.7261G>T	XP_005262214.2:p.Gly2421Trp
XM_006724666.2:c.7348G>T	XP_006724729.1:p.Gly2450Trp
XM_006724667.2:c.7186G>T	XP_006724730.1:p.Gly2396Trp
XR_938400.1:n.9057G>T
NM_000489.5:c.7465G>T	NP_000480.3:p.Gly2489Trp
XM_005262153.5:c.7462G>T	XP_005262210.2:p.Gly2488Trp
XM_005262154.5:c.7378G>T	XP_005262211.2:p.Gly2460Trp
XM_005262155.4:c.7348G>T	XP_005262212.2:p.Gly2450Trp
XM_005262156.4:c.7300G>T	XP_005262213.2:p.Gly2434Trp
XM_005262157.5:c.7261G>T	XP_005262214.2:p.Gly2421Trp
XM_006724666.4:c.7348G>T	XP_006724729.1:p.Gly2450Trp
XM_006724667.3:c.7186G>T	XP_006724730.1:p.Gly2396Trp
XM_017029601.2:c.7375G>T	XP_016885090.1:p.Gly2459Trp
XM_017029602.1:c.7345G>T	XP_016885091.1:p.Gly2449Trp
XM_017029603.1:c.7297G>T	XP_016885092.1:p.Gly2433Trp
XM_017029604.2:c.7264G>T	XP_016885093.1:p.Gly2422Trp
XM_017029605.1:c.7261G>T	XP_016885094.1:p.Gly2421Trp
XM_017029606.2:c.7234G>T	XP_016885095.1:p.Gly2412Trp
XM_017029607.2:c.7231G>T	XP_016885096.1:p.Gly2411Trp
XM_017029608.2:c.7183G>T	XP_016885097.1:p.Gly2395Trp
XM_017029609.1:c.7147G>T	XP_016885098.1:p.Gly2383Trp
XM_017029610.1:c.7144G>T	XP_016885099.1:p.Gly2382Trp
XM_017029611.1:c.7099G>T	XP_016885100.1:p.Gly2367Trp
XR_001755700.2:n.7764G>T
NM_138270.4:c.7351G>T	NP_612114.2:p.Gly2451Trp
NM_000489.6:c.7465G>T MANE Select	NP_000480.3:p.Gly2489Trp
NM_138270.5:c.7351G>T	NP_612114.2:p.Gly2451Trp