Canonical Allele Identifier: CA413704567

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2660955
• ClinVar RCV Id: RCV003439684
• gnomAD v4: X-77508521-T-G
• MyVariant Identifiers: chrX:g.76763999T>G (hg19) ; chrX:g.77508521T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508521T>G , CM000685.2:g.77508521T>G	GRCh38
NC_000023.10:g.76763999T>G , CM000685.1:g.76763999T>G	GRCh37
NC_000023.9:g.76650655T>G	NCBI36
NG_008838.2:g.282701A>C
NG_008838.3:g.282749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7309A>C MANE Select	ENSP00000362441.4:p.Met2437Leu
ENST00000675732.1:c.2407A>C	ENSP00000502598.1:p.Met803Leu
ENST00000373344.9:c.7309A>C	ENSP00000362441.4:p.Met2437Leu
ENST00000395603.7:c.7195A>C	ENSP00000378967.3:p.Met2399Leu
ENST00000480283.5:c.*6937A>C	ENSP00000480196.1:n.*6937A>C
ENST00000623706.3:n.5629A>C
ENST00000624766.1:n.540A>C
NM_000489.4:c.7309A>C	NP_000480.3:p.Met2437Leu
NM_138270.3:c.7195A>C	NP_612114.2:p.Met2399Leu
XM_005262153.3:c.7306A>C	XP_005262210.2:p.Met2436Leu
XM_005262154.3:c.7222A>C	XP_005262211.2:p.Met2408Leu
XM_005262155.3:c.7192A>C	XP_005262212.2:p.Met2398Leu
XM_005262156.3:c.7144A>C	XP_005262213.2:p.Met2382Leu
XM_005262157.3:c.7105A>C	XP_005262214.2:p.Met2369Leu
XM_006724666.2:c.7192A>C	XP_006724729.1:p.Met2398Leu
XM_006724667.2:c.7030A>C	XP_006724730.1:p.Met2344Leu
XR_938400.1:n.8901A>C
NM_000489.5:c.7309A>C	NP_000480.3:p.Met2437Leu
XM_005262153.5:c.7306A>C	XP_005262210.2:p.Met2436Leu
XM_005262154.5:c.7222A>C	XP_005262211.2:p.Met2408Leu
XM_005262155.4:c.7192A>C	XP_005262212.2:p.Met2398Leu
XM_005262156.4:c.7144A>C	XP_005262213.2:p.Met2382Leu
XM_005262157.5:c.7105A>C	XP_005262214.2:p.Met2369Leu
XM_006724666.4:c.7192A>C	XP_006724729.1:p.Met2398Leu
XM_006724667.3:c.7030A>C	XP_006724730.1:p.Met2344Leu
XM_017029601.2:c.7219A>C	XP_016885090.1:p.Met2407Leu
XM_017029602.1:c.7189A>C	XP_016885091.1:p.Met2397Leu
XM_017029603.1:c.7141A>C	XP_016885092.1:p.Met2381Leu
XM_017029604.2:c.7108A>C	XP_016885093.1:p.Met2370Leu
XM_017029605.1:c.7105A>C	XP_016885094.1:p.Met2369Leu
XM_017029606.2:c.7078A>C	XP_016885095.1:p.Met2360Leu
XM_017029607.2:c.7075A>C	XP_016885096.1:p.Met2359Leu
XM_017029608.2:c.7027A>C	XP_016885097.1:p.Met2343Leu
XM_017029609.1:c.6991A>C	XP_016885098.1:p.Met2331Leu
XM_017029610.1:c.6988A>C	XP_016885099.1:p.Met2330Leu
XM_017029611.1:c.6943A>C	XP_016885100.1:p.Met2315Leu
XR_001755700.2:n.7608A>C
NM_138270.4:c.7195A>C	NP_612114.2:p.Met2399Leu
NM_000489.6:c.7309A>C MANE Select	NP_000480.3:p.Met2437Leu
NM_138270.5:c.7195A>C	NP_612114.2:p.Met2399Leu