Canonical Allele Identifier: CA413704735

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650950
• MyVariant Identifiers: chrX:g.76764023G>A (hg19) ; chrX:g.77508545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508545G>A , CM000685.2:g.77508545G>A	GRCh38
NC_000023.10:g.76764023G>A , CM000685.1:g.76764023G>A	GRCh37
NC_000023.9:g.76650679G>A	NCBI36
NG_008838.2:g.282677C>T
NG_008838.3:g.282725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7285C>T MANE Select	ENSP00000362441.4:p.Gln2429Ter
ENST00000675732.1:c.2383C>T	ENSP00000502598.1:p.Gln795Ter
ENST00000373344.9:c.7285C>T	ENSP00000362441.4:p.Gln2429Ter
ENST00000395603.7:c.7171C>T	ENSP00000378967.3:p.Gln2391Ter
ENST00000480283.5:c.*6913C>T	ENSP00000480196.1:n.*6913C>T
ENST00000623706.3:n.5605C>T
ENST00000624766.1:n.516C>T
NM_000489.4:c.7285C>T	NP_000480.3:p.Gln2429Ter
NM_138270.3:c.7171C>T	NP_612114.2:p.Gln2391Ter
XM_005262153.3:c.7282C>T	XP_005262210.2:p.Gln2428Ter
XM_005262154.3:c.7198C>T	XP_005262211.2:p.Gln2400Ter
XM_005262155.3:c.7168C>T	XP_005262212.2:p.Gln2390Ter
XM_005262156.3:c.7120C>T	XP_005262213.2:p.Gln2374Ter
XM_005262157.3:c.7081C>T	XP_005262214.2:p.Gln2361Ter
XM_006724666.2:c.7168C>T	XP_006724729.1:p.Gln2390Ter
XM_006724667.2:c.7006C>T	XP_006724730.1:p.Gln2336Ter
XR_938400.1:n.8877C>T
NM_000489.5:c.7285C>T	NP_000480.3:p.Gln2429Ter
XM_005262153.5:c.7282C>T	XP_005262210.2:p.Gln2428Ter
XM_005262154.5:c.7198C>T	XP_005262211.2:p.Gln2400Ter
XM_005262155.4:c.7168C>T	XP_005262212.2:p.Gln2390Ter
XM_005262156.4:c.7120C>T	XP_005262213.2:p.Gln2374Ter
XM_005262157.5:c.7081C>T	XP_005262214.2:p.Gln2361Ter
XM_006724666.4:c.7168C>T	XP_006724729.1:p.Gln2390Ter
XM_006724667.3:c.7006C>T	XP_006724730.1:p.Gln2336Ter
XM_017029601.2:c.7195C>T	XP_016885090.1:p.Gln2399Ter
XM_017029602.1:c.7165C>T	XP_016885091.1:p.Gln2389Ter
XM_017029603.1:c.7117C>T	XP_016885092.1:p.Gln2373Ter
XM_017029604.2:c.7084C>T	XP_016885093.1:p.Gln2362Ter
XM_017029605.1:c.7081C>T	XP_016885094.1:p.Gln2361Ter
XM_017029606.2:c.7054C>T	XP_016885095.1:p.Gln2352Ter
XM_017029607.2:c.7051C>T	XP_016885096.1:p.Gln2351Ter
XM_017029608.2:c.7003C>T	XP_016885097.1:p.Gln2335Ter
XM_017029609.1:c.6967C>T	XP_016885098.1:p.Gln2323Ter
XM_017029610.1:c.6964C>T	XP_016885099.1:p.Gln2322Ter
XM_017029611.1:c.6919C>T	XP_016885100.1:p.Gln2307Ter
XR_001755700.2:n.7584C>T
NM_138270.4:c.7171C>T	NP_612114.2:p.Gln2391Ter
NM_000489.6:c.7285C>T MANE Select	NP_000480.3:p.Gln2429Ter
NM_138270.5:c.7171C>T	NP_612114.2:p.Gln2391Ter