Canonical Allele Identifier: CA517374085

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1562771
• ClinVar RCV Id: RCV002205048
• dbSNP Id: rs2147648510
• MyVariant Identifiers: chrX:g.76763952C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508474C>T , CM000685.2:g.77508474C>T	GRCh38
NC_000023.10:g.76763952C>T , CM000685.1:g.76763952C>T	GRCh37
NC_000023.9:g.76650608C>T	NCBI36
NG_008838.2:g.282748G>A
NG_008838.3:g.282796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7356G>A MANE Select	ENSP00000362441.4:p.Gln2452=
ENST00000675732.1:c.2454G>A	ENSP00000502598.1:p.Gln818=
ENST00000373344.9:c.7356G>A	ENSP00000362441.4:p.Gln2452=
ENST00000395603.7:c.7242G>A	ENSP00000378967.3:p.Gln2414=
ENST00000480283.5:c.*6984G>A	ENSP00000480196.1:n.*6984G>A
ENST00000623706.3:n.5676G>A
NM_000489.4:c.7356G>A	NP_000480.3:p.Gln2452=
NM_138270.3:c.7242G>A	NP_612114.2:p.Gln2414=
XM_005262153.3:c.7353G>A	XP_005262210.2:p.Gln2451=
XM_005262154.3:c.7269G>A	XP_005262211.2:p.Gln2423=
XM_005262155.3:c.7239G>A	XP_005262212.2:p.Gln2413=
XM_005262156.3:c.7191G>A	XP_005262213.2:p.Gln2397=
XM_005262157.3:c.7152G>A	XP_005262214.2:p.Gln2384=
XM_006724666.2:c.7239G>A	XP_006724729.1:p.Gln2413=
XM_006724667.2:c.7077G>A	XP_006724730.1:p.Gln2359=
XR_938400.1:n.8948G>A
NM_000489.5:c.7356G>A	NP_000480.3:p.Gln2452=
XM_005262153.5:c.7353G>A	XP_005262210.2:p.Gln2451=
XM_005262154.5:c.7269G>A	XP_005262211.2:p.Gln2423=
XM_005262155.4:c.7239G>A	XP_005262212.2:p.Gln2413=
XM_005262156.4:c.7191G>A	XP_005262213.2:p.Gln2397=
XM_005262157.5:c.7152G>A	XP_005262214.2:p.Gln2384=
XM_006724666.4:c.7239G>A	XP_006724729.1:p.Gln2413=
XM_006724667.3:c.7077G>A	XP_006724730.1:p.Gln2359=
XM_017029601.2:c.7266G>A	XP_016885090.1:p.Gln2422=
XM_017029602.1:c.7236G>A	XP_016885091.1:p.Gln2412=
XM_017029603.1:c.7188G>A	XP_016885092.1:p.Gln2396=
XM_017029604.2:c.7155G>A	XP_016885093.1:p.Gln2385=
XM_017029605.1:c.7152G>A	XP_016885094.1:p.Gln2384=
XM_017029606.2:c.7125G>A	XP_016885095.1:p.Gln2375=
XM_017029607.2:c.7122G>A	XP_016885096.1:p.Gln2374=
XM_017029608.2:c.7074G>A	XP_016885097.1:p.Gln2358=
XM_017029609.1:c.7038G>A	XP_016885098.1:p.Gln2346=
XM_017029610.1:c.7035G>A	XP_016885099.1:p.Gln2345=
XM_017029611.1:c.6990G>A	XP_016885100.1:p.Gln2330=
XR_001755700.2:n.7655G>A
NM_138270.4:c.7242G>A	NP_612114.2:p.Gln2414=
NM_000489.6:c.7356G>A MANE Select	NP_000480.3:p.Gln2452=
NM_138270.5:c.7242G>A	NP_612114.2:p.Gln2414=