Canonical Allele Identifier: CA642697045

Gene: ATRX

Linked Data

• dbSNP Id: rs1557106813
• gnomAD v2: X-76889248-T-A
• gnomAD v3: X-77633760-T-A
• gnomAD v4: X-77633760-T-A
• COSMIC: COSN7534485 ; COSN15653924
• MyVariant Identifiers: chrX:g.76889248T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633760T>A , CM000685.2:g.77633760T>A	GRCh38
NC_000023.10:g.76889248T>A , CM000685.1:g.76889248T>A	GRCh37
NC_000023.9:g.76775904T>A	NCBI36
NG_008838.2:g.157462A>T
NG_008838.3:g.157510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4810-48A>T MANE Select	ENSP00000362441.4:n.4810-48A>T
ENST00000675732.1:c.-141A>T	ENSP00000502598.1:n.-141A>T
ENST00000675908.1:n.497A>T
ENST00000373344.9:c.4810-48A>T	ENSP00000362441.4:n.4810-48A>T
ENST00000395603.7:c.4696-48A>T	ENSP00000378967.3:n.4696-48A>T
ENST00000480283.5:c.*4438-48A>T	ENSP00000480196.1:n.*4438-48A>T
ENST00000623242.3:c.547-48A>T
ENST00000624403.1:n.106A>T
NM_000489.4:c.4810-48A>T	NP_000480.3:n.4810-48A>T
NM_138270.3:c.4696-48A>T	NP_612114.2:n.4696-48A>T
XM_005262153.3:c.4807-48A>T	XP_005262210.2:n.4807-48A>T
XM_005262154.3:c.4723-48A>T	XP_005262211.2:n.4723-48A>T
XM_005262155.3:c.4693-48A>T	XP_005262212.2:n.4693-48A>T
XM_005262156.3:c.4645-48A>T	XP_005262213.2:n.4645-48A>T
XM_005262157.3:c.4606-48A>T	XP_005262214.2:n.4606-48A>T
XM_006724666.2:c.4693-48A>T	XP_006724729.1:n.4693-48A>T
XM_006724667.2:c.4531-48A>T	XP_006724730.1:n.4531-48A>T
XM_006724668.2:c.4810-48A>T	XP_006724731.1:n.4810-48A>T
XR_938400.1:n.5078-48A>T
NM_000489.5:c.4810-48A>T	NP_000480.3:n.4810-48A>T
XM_005262153.5:c.4807-48A>T	XP_005262210.2:n.4807-48A>T
XM_005262154.5:c.4723-48A>T	XP_005262211.2:n.4723-48A>T
XM_005262155.4:c.4693-48A>T	XP_005262212.2:n.4693-48A>T
XM_005262156.4:c.4645-48A>T	XP_005262213.2:n.4645-48A>T
XM_005262157.5:c.4606-48A>T	XP_005262214.2:n.4606-48A>T
XM_006724666.4:c.4693-48A>T	XP_006724729.1:n.4693-48A>T
XM_006724667.3:c.4531-48A>T	XP_006724730.1:n.4531-48A>T
XM_006724668.3:c.4810-48A>T	XP_006724731.1:n.4810-48A>T
XM_017029601.2:c.4720-48A>T	XP_016885090.1:n.4720-48A>T
XM_017029602.1:c.4690-48A>T	XP_016885091.1:n.4690-48A>T
XM_017029603.1:c.4642-48A>T	XP_016885092.1:n.4642-48A>T
XM_017029604.2:c.4609-48A>T	XP_016885093.1:n.4609-48A>T
XM_017029605.1:c.4606-48A>T	XP_016885094.1:n.4606-48A>T
XM_017029606.2:c.4579-48A>T	XP_016885095.1:n.4579-48A>T
XM_017029607.2:c.4576-48A>T	XP_016885096.1:n.4576-48A>T
XM_017029608.2:c.4528-48A>T	XP_016885097.1:n.4528-48A>T
XM_017029609.1:c.4492-48A>T	XP_016885098.1:n.4492-48A>T
XM_017029610.1:c.4489-48A>T	XP_016885099.1:n.4489-48A>T
XM_017029611.1:c.4444-48A>T	XP_016885100.1:n.4444-48A>T
XR_001755700.2:n.5035-48A>T
NM_138270.4:c.4696-48A>T	NP_612114.2:n.4696-48A>T
NM_000489.6:c.4810-48A>T MANE Select	NP_000480.3:n.4810-48A>T
NM_138270.5:c.4696-48A>T	NP_612114.2:n.4696-48A>T