Canonical Allele Identifier: CA413703503

Gene: ATRX

Linked Data

• gnomAD v4: X-77508380-G-C
• MyVariant Identifiers: chrX:g.76763858G>C (hg19) ; chrX:g.77508380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508380G>C , CM000685.2:g.77508380G>C	GRCh38
NC_000023.10:g.76763858G>C , CM000685.1:g.76763858G>C	GRCh37
NC_000023.9:g.76650514G>C	NCBI36
NG_008838.2:g.282842C>G
NG_008838.3:g.282890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7450C>G MANE Select	ENSP00000362441.4:p.Pro2484Ala
ENST00000675732.1:c.2548C>G	ENSP00000502598.1:p.Pro850Ala
ENST00000373344.9:c.7450C>G	ENSP00000362441.4:p.Pro2484Ala
ENST00000395603.7:c.7336C>G	ENSP00000378967.3:p.Pro2446Ala
ENST00000480283.5:c.*7078C>G	ENSP00000480196.1:n.*7078C>G
ENST00000623706.3:n.5770C>G
NM_000489.4:c.7450C>G	NP_000480.3:p.Pro2484Ala
NM_138270.3:c.7336C>G	NP_612114.2:p.Pro2446Ala
XM_005262153.3:c.7447C>G	XP_005262210.2:p.Pro2483Ala
XM_005262154.3:c.7363C>G	XP_005262211.2:p.Pro2455Ala
XM_005262155.3:c.7333C>G	XP_005262212.2:p.Pro2445Ala
XM_005262156.3:c.7285C>G	XP_005262213.2:p.Pro2429Ala
XM_005262157.3:c.7246C>G	XP_005262214.2:p.Pro2416Ala
XM_006724666.2:c.7333C>G	XP_006724729.1:p.Pro2445Ala
XM_006724667.2:c.7171C>G	XP_006724730.1:p.Pro2391Ala
XR_938400.1:n.9042C>G
NM_000489.5:c.7450C>G	NP_000480.3:p.Pro2484Ala
XM_005262153.5:c.7447C>G	XP_005262210.2:p.Pro2483Ala
XM_005262154.5:c.7363C>G	XP_005262211.2:p.Pro2455Ala
XM_005262155.4:c.7333C>G	XP_005262212.2:p.Pro2445Ala
XM_005262156.4:c.7285C>G	XP_005262213.2:p.Pro2429Ala
XM_005262157.5:c.7246C>G	XP_005262214.2:p.Pro2416Ala
XM_006724666.4:c.7333C>G	XP_006724729.1:p.Pro2445Ala
XM_006724667.3:c.7171C>G	XP_006724730.1:p.Pro2391Ala
XM_017029601.2:c.7360C>G	XP_016885090.1:p.Pro2454Ala
XM_017029602.1:c.7330C>G	XP_016885091.1:p.Pro2444Ala
XM_017029603.1:c.7282C>G	XP_016885092.1:p.Pro2428Ala
XM_017029604.2:c.7249C>G	XP_016885093.1:p.Pro2417Ala
XM_017029605.1:c.7246C>G	XP_016885094.1:p.Pro2416Ala
XM_017029606.2:c.7219C>G	XP_016885095.1:p.Pro2407Ala
XM_017029607.2:c.7216C>G	XP_016885096.1:p.Pro2406Ala
XM_017029608.2:c.7168C>G	XP_016885097.1:p.Pro2390Ala
XM_017029609.1:c.7132C>G	XP_016885098.1:p.Pro2378Ala
XM_017029610.1:c.7129C>G	XP_016885099.1:p.Pro2377Ala
XM_017029611.1:c.7084C>G	XP_016885100.1:p.Pro2362Ala
XR_001755700.2:n.7749C>G
NM_138270.4:c.7336C>G	NP_612114.2:p.Pro2446Ala
NM_000489.6:c.7450C>G MANE Select	NP_000480.3:p.Pro2484Ala
NM_138270.5:c.7336C>G	NP_612114.2:p.Pro2446Ala