Canonical Allele Identifier: CA413704847

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651269
• MyVariant Identifiers: chrX:g.76764035G>C (hg19) ; chrX:g.77508557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508557G>C , CM000685.2:g.77508557G>C	GRCh38
NC_000023.10:g.76764035G>C , CM000685.1:g.76764035G>C	GRCh37
NC_000023.9:g.76650691G>C	NCBI36
NG_008838.2:g.282665C>G
NG_008838.3:g.282713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7273C>G MANE Select	ENSP00000362441.4:p.Gln2425Glu
ENST00000675732.1:c.2371C>G	ENSP00000502598.1:p.Gln791Glu
ENST00000373344.9:c.7273C>G	ENSP00000362441.4:p.Gln2425Glu
ENST00000395603.7:c.7159C>G	ENSP00000378967.3:p.Gln2387Glu
ENST00000480283.5:c.*6901C>G	ENSP00000480196.1:n.*6901C>G
ENST00000623706.3:n.5593C>G
ENST00000624766.1:n.504C>G
NM_000489.4:c.7273C>G	NP_000480.3:p.Gln2425Glu
NM_138270.3:c.7159C>G	NP_612114.2:p.Gln2387Glu
XM_005262153.3:c.7270C>G	XP_005262210.2:p.Gln2424Glu
XM_005262154.3:c.7186C>G	XP_005262211.2:p.Gln2396Glu
XM_005262155.3:c.7156C>G	XP_005262212.2:p.Gln2386Glu
XM_005262156.3:c.7108C>G	XP_005262213.2:p.Gln2370Glu
XM_005262157.3:c.7069C>G	XP_005262214.2:p.Gln2357Glu
XM_006724666.2:c.7156C>G	XP_006724729.1:p.Gln2386Glu
XM_006724667.2:c.6994C>G	XP_006724730.1:p.Gln2332Glu
XR_938400.1:n.8865C>G
NM_000489.5:c.7273C>G	NP_000480.3:p.Gln2425Glu
XM_005262153.5:c.7270C>G	XP_005262210.2:p.Gln2424Glu
XM_005262154.5:c.7186C>G	XP_005262211.2:p.Gln2396Glu
XM_005262155.4:c.7156C>G	XP_005262212.2:p.Gln2386Glu
XM_005262156.4:c.7108C>G	XP_005262213.2:p.Gln2370Glu
XM_005262157.5:c.7069C>G	XP_005262214.2:p.Gln2357Glu
XM_006724666.4:c.7156C>G	XP_006724729.1:p.Gln2386Glu
XM_006724667.3:c.6994C>G	XP_006724730.1:p.Gln2332Glu
XM_017029601.2:c.7183C>G	XP_016885090.1:p.Gln2395Glu
XM_017029602.1:c.7153C>G	XP_016885091.1:p.Gln2385Glu
XM_017029603.1:c.7105C>G	XP_016885092.1:p.Gln2369Glu
XM_017029604.2:c.7072C>G	XP_016885093.1:p.Gln2358Glu
XM_017029605.1:c.7069C>G	XP_016885094.1:p.Gln2357Glu
XM_017029606.2:c.7042C>G	XP_016885095.1:p.Gln2348Glu
XM_017029607.2:c.7039C>G	XP_016885096.1:p.Gln2347Glu
XM_017029608.2:c.6991C>G	XP_016885097.1:p.Gln2331Glu
XM_017029609.1:c.6955C>G	XP_016885098.1:p.Gln2319Glu
XM_017029610.1:c.6952C>G	XP_016885099.1:p.Gln2318Glu
XM_017029611.1:c.6907C>G	XP_016885100.1:p.Gln2303Glu
XR_001755700.2:n.7572C>G
NM_138270.4:c.7159C>G	NP_612114.2:p.Gln2387Glu
NM_000489.6:c.7273C>G MANE Select	NP_000480.3:p.Gln2425Glu
NM_138270.5:c.7159C>G	NP_612114.2:p.Gln2387Glu