Canonical Allele Identifier: CA413703986

Gene: ATRX

Linked Data

• dbSNP Id: rs1161899862
• MyVariant Identifiers: chrX:g.76763924G>C (hg19) ; chrX:g.77508446G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508446G>C , CM000685.2:g.77508446G>C	GRCh38
NC_000023.10:g.76763924G>C , CM000685.1:g.76763924G>C	GRCh37
NC_000023.9:g.76650580G>C	NCBI36
NG_008838.2:g.282776C>G
NG_008838.3:g.282824C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7384C>G MANE Select	ENSP00000362441.4:p.Pro2462Ala
ENST00000675732.1:c.2482C>G	ENSP00000502598.1:p.Pro828Ala
ENST00000373344.9:c.7384C>G	ENSP00000362441.4:p.Pro2462Ala
ENST00000395603.7:c.7270C>G	ENSP00000378967.3:p.Pro2424Ala
ENST00000480283.5:c.*7012C>G	ENSP00000480196.1:n.*7012C>G
ENST00000623706.3:n.5704C>G
NM_000489.4:c.7384C>G	NP_000480.3:p.Pro2462Ala
NM_138270.3:c.7270C>G	NP_612114.2:p.Pro2424Ala
XM_005262153.3:c.7381C>G	XP_005262210.2:p.Pro2461Ala
XM_005262154.3:c.7297C>G	XP_005262211.2:p.Pro2433Ala
XM_005262155.3:c.7267C>G	XP_005262212.2:p.Pro2423Ala
XM_005262156.3:c.7219C>G	XP_005262213.2:p.Pro2407Ala
XM_005262157.3:c.7180C>G	XP_005262214.2:p.Pro2394Ala
XM_006724666.2:c.7267C>G	XP_006724729.1:p.Pro2423Ala
XM_006724667.2:c.7105C>G	XP_006724730.1:p.Pro2369Ala
XR_938400.1:n.8976C>G
NM_000489.5:c.7384C>G	NP_000480.3:p.Pro2462Ala
XM_005262153.5:c.7381C>G	XP_005262210.2:p.Pro2461Ala
XM_005262154.5:c.7297C>G	XP_005262211.2:p.Pro2433Ala
XM_005262155.4:c.7267C>G	XP_005262212.2:p.Pro2423Ala
XM_005262156.4:c.7219C>G	XP_005262213.2:p.Pro2407Ala
XM_005262157.5:c.7180C>G	XP_005262214.2:p.Pro2394Ala
XM_006724666.4:c.7267C>G	XP_006724729.1:p.Pro2423Ala
XM_006724667.3:c.7105C>G	XP_006724730.1:p.Pro2369Ala
XM_017029601.2:c.7294C>G	XP_016885090.1:p.Pro2432Ala
XM_017029602.1:c.7264C>G	XP_016885091.1:p.Pro2422Ala
XM_017029603.1:c.7216C>G	XP_016885092.1:p.Pro2406Ala
XM_017029604.2:c.7183C>G	XP_016885093.1:p.Pro2395Ala
XM_017029605.1:c.7180C>G	XP_016885094.1:p.Pro2394Ala
XM_017029606.2:c.7153C>G	XP_016885095.1:p.Pro2385Ala
XM_017029607.2:c.7150C>G	XP_016885096.1:p.Pro2384Ala
XM_017029608.2:c.7102C>G	XP_016885097.1:p.Pro2368Ala
XM_017029609.1:c.7066C>G	XP_016885098.1:p.Pro2356Ala
XM_017029610.1:c.7063C>G	XP_016885099.1:p.Pro2355Ala
XM_017029611.1:c.7018C>G	XP_016885100.1:p.Pro2340Ala
XR_001755700.2:n.7683C>G
NM_138270.4:c.7270C>G	NP_612114.2:p.Pro2424Ala
NM_000489.6:c.7384C>G MANE Select	NP_000480.3:p.Pro2462Ala
NM_138270.5:c.7270C>G	NP_612114.2:p.Pro2424Ala