Canonical Allele Identifier: CA413704845

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764035G>A (hg19) ; chrX:g.77508557G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7273C>T MANE Select	ENSP00000362441.4:p.Gln2425Ter
ENST00000675732.1:c.2371C>T	ENSP00000502598.1:p.Gln791Ter
ENST00000373344.9:c.7273C>T	ENSP00000362441.4:p.Gln2425Ter
ENST00000395603.7:c.7159C>T	ENSP00000378967.3:p.Gln2387Ter
ENST00000480283.5:c.*6901C>T	ENSP00000480196.1:n.*6901C>T
ENST00000623706.3:n.5593C>T
ENST00000624766.1:n.504C>T
NM_000489.4:c.7273C>T	NP_000480.3:p.Gln2425Ter
NM_138270.3:c.7159C>T	NP_612114.2:p.Gln2387Ter
XM_005262153.3:c.7270C>T	XP_005262210.2:p.Gln2424Ter
XM_005262154.3:c.7186C>T	XP_005262211.2:p.Gln2396Ter
XM_005262155.3:c.7156C>T	XP_005262212.2:p.Gln2386Ter
XM_005262156.3:c.7108C>T	XP_005262213.2:p.Gln2370Ter
XM_005262157.3:c.7069C>T	XP_005262214.2:p.Gln2357Ter
XM_006724666.2:c.7156C>T	XP_006724729.1:p.Gln2386Ter
XM_006724667.2:c.6994C>T	XP_006724730.1:p.Gln2332Ter
XR_938400.1:n.8865C>T
NM_000489.5:c.7273C>T	NP_000480.3:p.Gln2425Ter
XM_005262153.5:c.7270C>T	XP_005262210.2:p.Gln2424Ter
XM_005262154.5:c.7186C>T	XP_005262211.2:p.Gln2396Ter
XM_005262155.4:c.7156C>T	XP_005262212.2:p.Gln2386Ter
XM_005262156.4:c.7108C>T	XP_005262213.2:p.Gln2370Ter
XM_005262157.5:c.7069C>T	XP_005262214.2:p.Gln2357Ter
XM_006724666.4:c.7156C>T	XP_006724729.1:p.Gln2386Ter
XM_006724667.3:c.6994C>T	XP_006724730.1:p.Gln2332Ter
XM_017029601.2:c.7183C>T	XP_016885090.1:p.Gln2395Ter
XM_017029602.1:c.7153C>T	XP_016885091.1:p.Gln2385Ter
XM_017029603.1:c.7105C>T	XP_016885092.1:p.Gln2369Ter
XM_017029604.2:c.7072C>T	XP_016885093.1:p.Gln2358Ter
XM_017029605.1:c.7069C>T	XP_016885094.1:p.Gln2357Ter
XM_017029606.2:c.7042C>T	XP_016885095.1:p.Gln2348Ter
XM_017029607.2:c.7039C>T	XP_016885096.1:p.Gln2347Ter
XM_017029608.2:c.6991C>T	XP_016885097.1:p.Gln2331Ter
XM_017029609.1:c.6955C>T	XP_016885098.1:p.Gln2319Ter
XM_017029610.1:c.6952C>T	XP_016885099.1:p.Gln2318Ter
XM_017029611.1:c.6907C>T	XP_016885100.1:p.Gln2303Ter
XR_001755700.2:n.7572C>T
NM_138270.4:c.7159C>T	NP_612114.2:p.Gln2387Ter
NM_000489.6:c.7273C>T MANE Select	NP_000480.3:p.Gln2425Ter
NM_138270.5:c.7159C>T	NP_612114.2:p.Gln2387Ter