Canonical Allele Identifier: CA413704285

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763967A>C (hg19) ; chrX:g.77508489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508489A>C , CM000685.2:g.77508489A>C	GRCh38
NC_000023.10:g.76763967A>C , CM000685.1:g.76763967A>C	GRCh37
NC_000023.9:g.76650623A>C	NCBI36
NG_008838.2:g.282733T>G
NG_008838.3:g.282781T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7341T>G MANE Select	ENSP00000362441.4:p.Asn2447Lys
ENST00000675732.1:c.2439T>G	ENSP00000502598.1:p.Asn813Lys
ENST00000373344.9:c.7341T>G	ENSP00000362441.4:p.Asn2447Lys
ENST00000395603.7:c.7227T>G	ENSP00000378967.3:p.Asn2409Lys
ENST00000480283.5:c.*6969T>G	ENSP00000480196.1:n.*6969T>G
ENST00000623706.3:n.5661T>G
ENST00000624766.1:n.572T>G
NM_000489.4:c.7341T>G	NP_000480.3:p.Asn2447Lys
NM_138270.3:c.7227T>G	NP_612114.2:p.Asn2409Lys
XM_005262153.3:c.7338T>G	XP_005262210.2:p.Asn2446Lys
XM_005262154.3:c.7254T>G	XP_005262211.2:p.Asn2418Lys
XM_005262155.3:c.7224T>G	XP_005262212.2:p.Asn2408Lys
XM_005262156.3:c.7176T>G	XP_005262213.2:p.Asn2392Lys
XM_005262157.3:c.7137T>G	XP_005262214.2:p.Asn2379Lys
XM_006724666.2:c.7224T>G	XP_006724729.1:p.Asn2408Lys
XM_006724667.2:c.7062T>G	XP_006724730.1:p.Asn2354Lys
XR_938400.1:n.8933T>G
NM_000489.5:c.7341T>G	NP_000480.3:p.Asn2447Lys
XM_005262153.5:c.7338T>G	XP_005262210.2:p.Asn2446Lys
XM_005262154.5:c.7254T>G	XP_005262211.2:p.Asn2418Lys
XM_005262155.4:c.7224T>G	XP_005262212.2:p.Asn2408Lys
XM_005262156.4:c.7176T>G	XP_005262213.2:p.Asn2392Lys
XM_005262157.5:c.7137T>G	XP_005262214.2:p.Asn2379Lys
XM_006724666.4:c.7224T>G	XP_006724729.1:p.Asn2408Lys
XM_006724667.3:c.7062T>G	XP_006724730.1:p.Asn2354Lys
XM_017029601.2:c.7251T>G	XP_016885090.1:p.Asn2417Lys
XM_017029602.1:c.7221T>G	XP_016885091.1:p.Asn2407Lys
XM_017029603.1:c.7173T>G	XP_016885092.1:p.Asn2391Lys
XM_017029604.2:c.7140T>G	XP_016885093.1:p.Asn2380Lys
XM_017029605.1:c.7137T>G	XP_016885094.1:p.Asn2379Lys
XM_017029606.2:c.7110T>G	XP_016885095.1:p.Asn2370Lys
XM_017029607.2:c.7107T>G	XP_016885096.1:p.Asn2369Lys
XM_017029608.2:c.7059T>G	XP_016885097.1:p.Asn2353Lys
XM_017029609.1:c.7023T>G	XP_016885098.1:p.Asn2341Lys
XM_017029610.1:c.7020T>G	XP_016885099.1:p.Asn2340Lys
XM_017029611.1:c.6975T>G	XP_016885100.1:p.Asn2325Lys
XR_001755700.2:n.7640T>G
NM_138270.4:c.7227T>G	NP_612114.2:p.Asn2409Lys
NM_000489.6:c.7341T>G MANE Select	NP_000480.3:p.Asn2447Lys
NM_138270.5:c.7227T>G	NP_612114.2:p.Asn2409Lys