Canonical Allele Identifier: CA413703703

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763882G>C (hg19) ; chrX:g.77508404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508404G>C , CM000685.2:g.77508404G>C	GRCh38
NC_000023.10:g.76763882G>C , CM000685.1:g.76763882G>C	GRCh37
NC_000023.9:g.76650538G>C	NCBI36
NG_008838.2:g.282818C>G
NG_008838.3:g.282866C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7426C>G MANE Select	ENSP00000362441.4:p.Pro2476Ala
ENST00000675732.1:c.2524C>G	ENSP00000502598.1:p.Pro842Ala
ENST00000373344.9:c.7426C>G	ENSP00000362441.4:p.Pro2476Ala
ENST00000395603.7:c.7312C>G	ENSP00000378967.3:p.Pro2438Ala
ENST00000480283.5:c.*7054C>G	ENSP00000480196.1:n.*7054C>G
ENST00000623706.3:n.5746C>G
NM_000489.4:c.7426C>G	NP_000480.3:p.Pro2476Ala
NM_138270.3:c.7312C>G	NP_612114.2:p.Pro2438Ala
XM_005262153.3:c.7423C>G	XP_005262210.2:p.Pro2475Ala
XM_005262154.3:c.7339C>G	XP_005262211.2:p.Pro2447Ala
XM_005262155.3:c.7309C>G	XP_005262212.2:p.Pro2437Ala
XM_005262156.3:c.7261C>G	XP_005262213.2:p.Pro2421Ala
XM_005262157.3:c.7222C>G	XP_005262214.2:p.Pro2408Ala
XM_006724666.2:c.7309C>G	XP_006724729.1:p.Pro2437Ala
XM_006724667.2:c.7147C>G	XP_006724730.1:p.Pro2383Ala
XR_938400.1:n.9018C>G
NM_000489.5:c.7426C>G	NP_000480.3:p.Pro2476Ala
XM_005262153.5:c.7423C>G	XP_005262210.2:p.Pro2475Ala
XM_005262154.5:c.7339C>G	XP_005262211.2:p.Pro2447Ala
XM_005262155.4:c.7309C>G	XP_005262212.2:p.Pro2437Ala
XM_005262156.4:c.7261C>G	XP_005262213.2:p.Pro2421Ala
XM_005262157.5:c.7222C>G	XP_005262214.2:p.Pro2408Ala
XM_006724666.4:c.7309C>G	XP_006724729.1:p.Pro2437Ala
XM_006724667.3:c.7147C>G	XP_006724730.1:p.Pro2383Ala
XM_017029601.2:c.7336C>G	XP_016885090.1:p.Pro2446Ala
XM_017029602.1:c.7306C>G	XP_016885091.1:p.Pro2436Ala
XM_017029603.1:c.7258C>G	XP_016885092.1:p.Pro2420Ala
XM_017029604.2:c.7225C>G	XP_016885093.1:p.Pro2409Ala
XM_017029605.1:c.7222C>G	XP_016885094.1:p.Pro2408Ala
XM_017029606.2:c.7195C>G	XP_016885095.1:p.Pro2399Ala
XM_017029607.2:c.7192C>G	XP_016885096.1:p.Pro2398Ala
XM_017029608.2:c.7144C>G	XP_016885097.1:p.Pro2382Ala
XM_017029609.1:c.7108C>G	XP_016885098.1:p.Pro2370Ala
XM_017029610.1:c.7105C>G	XP_016885099.1:p.Pro2369Ala
XM_017029611.1:c.7060C>G	XP_016885100.1:p.Pro2354Ala
XR_001755700.2:n.7725C>G
NM_138270.4:c.7312C>G	NP_612114.2:p.Pro2438Ala
NM_000489.6:c.7426C>G MANE Select	NP_000480.3:p.Pro2476Ala
NM_138270.5:c.7312C>G	NP_612114.2:p.Pro2438Ala