Canonical Allele Identifier: CA517374362

Gene: ATRX

Linked Data

• dbSNP Id: rs2147737186
• MyVariant Identifiers: chrX:g.76776269C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520791C>T , CM000685.2:g.77520791C>T	GRCh38
NC_000023.10:g.76776269C>T , CM000685.1:g.76776269C>T	GRCh37
NC_000023.9:g.76662925C>T	NCBI36
NG_008838.2:g.270431G>A
NG_008838.3:g.270479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7197G>A MANE Select	ENSP00000362441.4:p.Gln2399=
ENST00000675732.1:c.2295G>A	ENSP00000502598.1:p.Gln765=
ENST00000373344.9:c.7197G>A	ENSP00000362441.4:p.Gln2399=
ENST00000395603.7:c.7083G>A	ENSP00000378967.3:p.Gln2361=
ENST00000480283.5:c.*6825G>A	ENSP00000480196.1:n.*6825G>A
ENST00000623706.3:n.5517G>A
ENST00000624766.1:n.428G>A
NM_000489.4:c.7197G>A	NP_000480.3:p.Gln2399=
NM_138270.3:c.7083G>A	NP_612114.2:p.Gln2361=
XM_005262153.3:c.7194G>A	XP_005262210.2:p.Gln2398=
XM_005262154.3:c.7110G>A	XP_005262211.2:p.Gln2370=
XM_005262155.3:c.7080G>A	XP_005262212.2:p.Gln2360=
XM_005262156.3:c.7032G>A	XP_005262213.2:p.Gln2344=
XM_005262157.3:c.6993G>A	XP_005262214.2:p.Gln2331=
XM_006724666.2:c.7080G>A	XP_006724729.1:p.Gln2360=
XM_006724667.2:c.6918G>A	XP_006724730.1:p.Gln2306=
XR_938400.1:n.8789G>A
NM_000489.5:c.7197G>A	NP_000480.3:p.Gln2399=
XM_005262153.5:c.7194G>A	XP_005262210.2:p.Gln2398=
XM_005262154.5:c.7110G>A	XP_005262211.2:p.Gln2370=
XM_005262155.4:c.7080G>A	XP_005262212.2:p.Gln2360=
XM_005262156.4:c.7032G>A	XP_005262213.2:p.Gln2344=
XM_005262157.5:c.6993G>A	XP_005262214.2:p.Gln2331=
XM_006724666.4:c.7080G>A	XP_006724729.1:p.Gln2360=
XM_006724667.3:c.6918G>A	XP_006724730.1:p.Gln2306=
XM_017029601.2:c.7107G>A	XP_016885090.1:p.Gln2369=
XM_017029602.1:c.7077G>A	XP_016885091.1:p.Gln2359=
XM_017029603.1:c.7029G>A	XP_016885092.1:p.Gln2343=
XM_017029604.2:c.6996G>A	XP_016885093.1:p.Gln2332=
XM_017029605.1:c.6993G>A	XP_016885094.1:p.Gln2331=
XM_017029606.2:c.6966G>A	XP_016885095.1:p.Gln2322=
XM_017029607.2:c.6963G>A	XP_016885096.1:p.Gln2321=
XM_017029608.2:c.6915G>A	XP_016885097.1:p.Gln2305=
XM_017029609.1:c.6879G>A	XP_016885098.1:p.Gln2293=
XM_017029610.1:c.6876G>A	XP_016885099.1:p.Gln2292=
XM_017029611.1:c.6831G>A	XP_016885100.1:p.Gln2277=
XR_001755700.2:n.7496G>A
NM_138270.4:c.7083G>A	NP_612114.2:p.Gln2361=
NM_000489.6:c.7197G>A MANE Select	NP_000480.3:p.Gln2399=
NM_138270.5:c.7083G>A	NP_612114.2:p.Gln2361=