Canonical Allele Identifier: CA413707111

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776311T>G (hg19) ; chrX:g.77520833T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520833T>G , CM000685.2:g.77520833T>G	GRCh38
NC_000023.10:g.76776311T>G , CM000685.1:g.76776311T>G	GRCh37
NC_000023.9:g.76662967T>G	NCBI36
NG_008838.2:g.270389A>C
NG_008838.3:g.270437A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7155A>C MANE Select	ENSP00000362441.4:p.Lys2385Asn
ENST00000675732.1:c.2253A>C	ENSP00000502598.1:p.Lys751Asn
ENST00000373344.9:c.7155A>C	ENSP00000362441.4:p.Lys2385Asn
ENST00000395603.7:c.7041A>C	ENSP00000378967.3:p.Lys2347Asn
ENST00000480283.5:c.*6783A>C	ENSP00000480196.1:n.*6783A>C
ENST00000623706.3:n.5475A>C
ENST00000624766.1:n.386A>C
NM_000489.4:c.7155A>C	NP_000480.3:p.Lys2385Asn
NM_138270.3:c.7041A>C	NP_612114.2:p.Lys2347Asn
XM_005262153.3:c.7152A>C	XP_005262210.2:p.Lys2384Asn
XM_005262154.3:c.7068A>C	XP_005262211.2:p.Lys2356Asn
XM_005262155.3:c.7038A>C	XP_005262212.2:p.Lys2346Asn
XM_005262156.3:c.6990A>C	XP_005262213.2:p.Lys2330Asn
XM_005262157.3:c.6951A>C	XP_005262214.2:p.Lys2317Asn
XM_006724666.2:c.7038A>C	XP_006724729.1:p.Lys2346Asn
XM_006724667.2:c.6876A>C	XP_006724730.1:p.Lys2292Asn
XR_938400.1:n.8747A>C
NM_000489.5:c.7155A>C	NP_000480.3:p.Lys2385Asn
XM_005262153.5:c.7152A>C	XP_005262210.2:p.Lys2384Asn
XM_005262154.5:c.7068A>C	XP_005262211.2:p.Lys2356Asn
XM_005262155.4:c.7038A>C	XP_005262212.2:p.Lys2346Asn
XM_005262156.4:c.6990A>C	XP_005262213.2:p.Lys2330Asn
XM_005262157.5:c.6951A>C	XP_005262214.2:p.Lys2317Asn
XM_006724666.4:c.7038A>C	XP_006724729.1:p.Lys2346Asn
XM_006724667.3:c.6876A>C	XP_006724730.1:p.Lys2292Asn
XM_017029601.2:c.7065A>C	XP_016885090.1:p.Lys2355Asn
XM_017029602.1:c.7035A>C	XP_016885091.1:p.Lys2345Asn
XM_017029603.1:c.6987A>C	XP_016885092.1:p.Lys2329Asn
XM_017029604.2:c.6954A>C	XP_016885093.1:p.Lys2318Asn
XM_017029605.1:c.6951A>C	XP_016885094.1:p.Lys2317Asn
XM_017029606.2:c.6924A>C	XP_016885095.1:p.Lys2308Asn
XM_017029607.2:c.6921A>C	XP_016885096.1:p.Lys2307Asn
XM_017029608.2:c.6873A>C	XP_016885097.1:p.Lys2291Asn
XM_017029609.1:c.6837A>C	XP_016885098.1:p.Lys2279Asn
XM_017029610.1:c.6834A>C	XP_016885099.1:p.Lys2278Asn
XM_017029611.1:c.6789A>C	XP_016885100.1:p.Lys2263Asn
XR_001755700.2:n.7454A>C
NM_138270.4:c.7041A>C	NP_612114.2:p.Lys2347Asn
NM_000489.6:c.7155A>C MANE Select	NP_000480.3:p.Lys2385Asn
NM_138270.5:c.7041A>C	NP_612114.2:p.Lys2347Asn