Canonical Allele Identifier: CA413708560

Gene: ATRX

Linked Data

• dbSNP Id: rs1557117315
• gnomAD v2: X-76907768-C-A
• gnomAD v4: X-77652278-C-A
• MyVariant Identifiers: chrX:g.76907768C>A (hg19) ; chrX:g.77652278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652278C>A , CM000685.2:g.77652278C>A	GRCh38
NC_000023.10:g.76907768C>A , CM000685.1:g.76907768C>A	GRCh37
NC_000023.9:g.76794424C>A	NCBI36
NG_008838.2:g.138944G>T
NG_008838.3:g.138992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4393G>T MANE Select	ENSP00000362441.4:p.Asp1465Tyr
ENST00000373344.9:c.4393G>T	ENSP00000362441.4:p.Asp1465Tyr
ENST00000395603.7:c.4279G>T	ENSP00000378967.3:p.Asp1427Tyr
ENST00000480283.5:c.*4021G>T	ENSP00000480196.1:n.*4021G>T
NM_000489.4:c.4393G>T	NP_000480.3:p.Asp1465Tyr
NM_138270.3:c.4279G>T	NP_612114.2:p.Asp1427Tyr
XM_005262153.3:c.4390G>T	XP_005262210.2:p.Asp1464Tyr
XM_005262154.3:c.4306G>T	XP_005262211.2:p.Asp1436Tyr
XM_005262155.3:c.4276G>T	XP_005262212.2:p.Asp1426Tyr
XM_005262156.3:c.4228G>T	XP_005262213.2:p.Asp1410Tyr
XM_005262157.3:c.4189G>T	XP_005262214.2:p.Asp1397Tyr
XM_006724666.2:c.4276G>T	XP_006724729.1:p.Asp1426Tyr
XM_006724667.2:c.4114G>T	XP_006724730.1:p.Asp1372Tyr
XM_006724668.2:c.4393G>T	XP_006724731.1:p.Asp1465Tyr
XR_938400.1:n.4661G>T
NM_000489.5:c.4393G>T	NP_000480.3:p.Asp1465Tyr
XM_005262153.5:c.4390G>T	XP_005262210.2:p.Asp1464Tyr
XM_005262154.5:c.4306G>T	XP_005262211.2:p.Asp1436Tyr
XM_005262155.4:c.4276G>T	XP_005262212.2:p.Asp1426Tyr
XM_005262156.4:c.4228G>T	XP_005262213.2:p.Asp1410Tyr
XM_005262157.5:c.4189G>T	XP_005262214.2:p.Asp1397Tyr
XM_006724666.4:c.4276G>T	XP_006724729.1:p.Asp1426Tyr
XM_006724667.3:c.4114G>T	XP_006724730.1:p.Asp1372Tyr
XM_006724668.3:c.4393G>T	XP_006724731.1:p.Asp1465Tyr
XM_017029601.2:c.4303G>T	XP_016885090.1:p.Asp1435Tyr
XM_017029602.1:c.4273G>T	XP_016885091.1:p.Asp1425Tyr
XM_017029603.1:c.4225G>T	XP_016885092.1:p.Asp1409Tyr
XM_017029604.2:c.4192G>T	XP_016885093.1:p.Asp1398Tyr
XM_017029605.1:c.4189G>T	XP_016885094.1:p.Asp1397Tyr
XM_017029606.2:c.4162G>T	XP_016885095.1:p.Asp1388Tyr
XM_017029607.2:c.4159G>T	XP_016885096.1:p.Asp1387Tyr
XM_017029608.2:c.4111G>T	XP_016885097.1:p.Asp1371Tyr
XM_017029609.1:c.4075G>T	XP_016885098.1:p.Asp1359Tyr
XM_017029610.1:c.4072G>T	XP_016885099.1:p.Asp1358Tyr
XM_017029611.1:c.4027G>T	XP_016885100.1:p.Asp1343Tyr
XR_001755700.2:n.4618G>T
NM_138270.4:c.4279G>T	NP_612114.2:p.Asp1427Tyr
NM_000489.6:c.4393G>T MANE Select	NP_000480.3:p.Asp1465Tyr
NM_138270.5:c.4279G>T	NP_612114.2:p.Asp1427Tyr