Canonical Allele Identifier: CA413704300

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649102
• MyVariant Identifiers: chrX:g.76763969T>A (hg19) ; chrX:g.77508491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508491T>A , CM000685.2:g.77508491T>A	GRCh38
NC_000023.10:g.76763969T>A , CM000685.1:g.76763969T>A	GRCh37
NC_000023.9:g.76650625T>A	NCBI36
NG_008838.2:g.282731A>T
NG_008838.3:g.282779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7339A>T MANE Select	ENSP00000362441.4:p.Asn2447Tyr
ENST00000675732.1:c.2437A>T	ENSP00000502598.1:p.Asn813Tyr
ENST00000373344.9:c.7339A>T	ENSP00000362441.4:p.Asn2447Tyr
ENST00000395603.7:c.7225A>T	ENSP00000378967.3:p.Asn2409Tyr
ENST00000480283.5:c.*6967A>T	ENSP00000480196.1:n.*6967A>T
ENST00000623706.3:n.5659A>T
ENST00000624766.1:n.570A>T
NM_000489.4:c.7339A>T	NP_000480.3:p.Asn2447Tyr
NM_138270.3:c.7225A>T	NP_612114.2:p.Asn2409Tyr
XM_005262153.3:c.7336A>T	XP_005262210.2:p.Asn2446Tyr
XM_005262154.3:c.7252A>T	XP_005262211.2:p.Asn2418Tyr
XM_005262155.3:c.7222A>T	XP_005262212.2:p.Asn2408Tyr
XM_005262156.3:c.7174A>T	XP_005262213.2:p.Asn2392Tyr
XM_005262157.3:c.7135A>T	XP_005262214.2:p.Asn2379Tyr
XM_006724666.2:c.7222A>T	XP_006724729.1:p.Asn2408Tyr
XM_006724667.2:c.7060A>T	XP_006724730.1:p.Asn2354Tyr
XR_938400.1:n.8931A>T
NM_000489.5:c.7339A>T	NP_000480.3:p.Asn2447Tyr
XM_005262153.5:c.7336A>T	XP_005262210.2:p.Asn2446Tyr
XM_005262154.5:c.7252A>T	XP_005262211.2:p.Asn2418Tyr
XM_005262155.4:c.7222A>T	XP_005262212.2:p.Asn2408Tyr
XM_005262156.4:c.7174A>T	XP_005262213.2:p.Asn2392Tyr
XM_005262157.5:c.7135A>T	XP_005262214.2:p.Asn2379Tyr
XM_006724666.4:c.7222A>T	XP_006724729.1:p.Asn2408Tyr
XM_006724667.3:c.7060A>T	XP_006724730.1:p.Asn2354Tyr
XM_017029601.2:c.7249A>T	XP_016885090.1:p.Asn2417Tyr
XM_017029602.1:c.7219A>T	XP_016885091.1:p.Asn2407Tyr
XM_017029603.1:c.7171A>T	XP_016885092.1:p.Asn2391Tyr
XM_017029604.2:c.7138A>T	XP_016885093.1:p.Asn2380Tyr
XM_017029605.1:c.7135A>T	XP_016885094.1:p.Asn2379Tyr
XM_017029606.2:c.7108A>T	XP_016885095.1:p.Asn2370Tyr
XM_017029607.2:c.7105A>T	XP_016885096.1:p.Asn2369Tyr
XM_017029608.2:c.7057A>T	XP_016885097.1:p.Asn2353Tyr
XM_017029609.1:c.7021A>T	XP_016885098.1:p.Asn2341Tyr
XM_017029610.1:c.7018A>T	XP_016885099.1:p.Asn2340Tyr
XM_017029611.1:c.6973A>T	XP_016885100.1:p.Asn2325Tyr
XR_001755700.2:n.7638A>T
NM_138270.4:c.7225A>T	NP_612114.2:p.Asn2409Tyr
NM_000489.6:c.7339A>T MANE Select	NP_000480.3:p.Asn2447Tyr
NM_138270.5:c.7225A>T	NP_612114.2:p.Asn2409Tyr