Canonical Allele Identifier: CA517374164

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1540831
• ClinVar RCV Id: RCV002172209
• dbSNP Id: rs2147650995
• gnomAD v4: X-77508546-A-G
• MyVariant Identifiers: chrX:g.76764024A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508546A>G , CM000685.2:g.77508546A>G	GRCh38
NC_000023.10:g.76764024A>G , CM000685.1:g.76764024A>G	GRCh37
NC_000023.9:g.76650680A>G	NCBI36
NG_008838.2:g.282676T>C
NG_008838.3:g.282724T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7284T>C MANE Select	ENSP00000362441.4:p.Tyr2428=
ENST00000675732.1:c.2382T>C	ENSP00000502598.1:p.Tyr794=
ENST00000373344.9:c.7284T>C	ENSP00000362441.4:p.Tyr2428=
ENST00000395603.7:c.7170T>C	ENSP00000378967.3:p.Tyr2390=
ENST00000480283.5:c.*6912T>C	ENSP00000480196.1:n.*6912T>C
ENST00000623706.3:n.5604T>C
ENST00000624766.1:n.515T>C
NM_000489.4:c.7284T>C	NP_000480.3:p.Tyr2428=
NM_138270.3:c.7170T>C	NP_612114.2:p.Tyr2390=
XM_005262153.3:c.7281T>C	XP_005262210.2:p.Tyr2427=
XM_005262154.3:c.7197T>C	XP_005262211.2:p.Tyr2399=
XM_005262155.3:c.7167T>C	XP_005262212.2:p.Tyr2389=
XM_005262156.3:c.7119T>C	XP_005262213.2:p.Tyr2373=
XM_005262157.3:c.7080T>C	XP_005262214.2:p.Tyr2360=
XM_006724666.2:c.7167T>C	XP_006724729.1:p.Tyr2389=
XM_006724667.2:c.7005T>C	XP_006724730.1:p.Tyr2335=
XR_938400.1:n.8876T>C
NM_000489.5:c.7284T>C	NP_000480.3:p.Tyr2428=
XM_005262153.5:c.7281T>C	XP_005262210.2:p.Tyr2427=
XM_005262154.5:c.7197T>C	XP_005262211.2:p.Tyr2399=
XM_005262155.4:c.7167T>C	XP_005262212.2:p.Tyr2389=
XM_005262156.4:c.7119T>C	XP_005262213.2:p.Tyr2373=
XM_005262157.5:c.7080T>C	XP_005262214.2:p.Tyr2360=
XM_006724666.4:c.7167T>C	XP_006724729.1:p.Tyr2389=
XM_006724667.3:c.7005T>C	XP_006724730.1:p.Tyr2335=
XM_017029601.2:c.7194T>C	XP_016885090.1:p.Tyr2398=
XM_017029602.1:c.7164T>C	XP_016885091.1:p.Tyr2388=
XM_017029603.1:c.7116T>C	XP_016885092.1:p.Tyr2372=
XM_017029604.2:c.7083T>C	XP_016885093.1:p.Tyr2361=
XM_017029605.1:c.7080T>C	XP_016885094.1:p.Tyr2360=
XM_017029606.2:c.7053T>C	XP_016885095.1:p.Tyr2351=
XM_017029607.2:c.7050T>C	XP_016885096.1:p.Tyr2350=
XM_017029608.2:c.7002T>C	XP_016885097.1:p.Tyr2334=
XM_017029609.1:c.6966T>C	XP_016885098.1:p.Tyr2322=
XM_017029610.1:c.6963T>C	XP_016885099.1:p.Tyr2321=
XM_017029611.1:c.6918T>C	XP_016885100.1:p.Tyr2306=
XR_001755700.2:n.7583T>C
NM_138270.4:c.7170T>C	NP_612114.2:p.Tyr2390=
NM_000489.6:c.7284T>C MANE Select	NP_000480.3:p.Tyr2428=
NM_138270.5:c.7170T>C	NP_612114.2:p.Tyr2390=