Canonical Allele Identifier: CA10457423

Gene: ATRX

Linked Data

• ClinVar Variation Id: 533638
• ClinVar RCV Id: RCV000640845 ; RCV001534447 ; RCV002317396
• dbSNP Id: rs3027525
• ExAC: X:76776383 G / A
• gnomAD v2: X-76776383-G-A
• gnomAD v3: X-77520905-G-A
• gnomAD v4: X-77520905-G-A
• MyVariant Identifiers: chrX:g.76776383G>A (hg19) ; chrX:g.77520905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520905G>A , CM000685.2:g.77520905G>A	GRCh38
NC_000023.10:g.76776383G>A , CM000685.1:g.76776383G>A	GRCh37
NC_000023.9:g.76663039G>A	NCBI36
NG_008838.2:g.270317C>T
NG_008838.3:g.270365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7083C>T MANE Select	ENSP00000362441.4:p.Asn2361=
ENST00000675732.1:c.2181C>T	ENSP00000502598.1:p.Asn727=
ENST00000373344.9:c.7083C>T	ENSP00000362441.4:p.Asn2361=
ENST00000395603.7:c.6969C>T	ENSP00000378967.3:p.Asn2323=
ENST00000480283.5:c.*6711C>T	ENSP00000480196.1:n.*6711C>T
ENST00000623706.3:n.5403C>T
ENST00000624766.1:n.314C>T
NM_000489.4:c.7083C>T	NP_000480.3:p.Asn2361=
NM_138270.3:c.6969C>T	NP_612114.2:p.Asn2323=
XM_005262153.3:c.7080C>T	XP_005262210.2:p.Asn2360=
XM_005262154.3:c.6996C>T	XP_005262211.2:p.Asn2332=
XM_005262155.3:c.6966C>T	XP_005262212.2:p.Asn2322=
XM_005262156.3:c.6918C>T	XP_005262213.2:p.Asn2306=
XM_005262157.3:c.6879C>T	XP_005262214.2:p.Asn2293=
XM_006724666.2:c.6966C>T	XP_006724729.1:p.Asn2322=
XM_006724667.2:c.6804C>T	XP_006724730.1:p.Asn2268=
XR_938400.1:n.8675C>T
NM_000489.5:c.7083C>T	NP_000480.3:p.Asn2361=
XM_005262153.5:c.7080C>T	XP_005262210.2:p.Asn2360=
XM_005262154.5:c.6996C>T	XP_005262211.2:p.Asn2332=
XM_005262155.4:c.6966C>T	XP_005262212.2:p.Asn2322=
XM_005262156.4:c.6918C>T	XP_005262213.2:p.Asn2306=
XM_005262157.5:c.6879C>T	XP_005262214.2:p.Asn2293=
XM_006724666.4:c.6966C>T	XP_006724729.1:p.Asn2322=
XM_006724667.3:c.6804C>T	XP_006724730.1:p.Asn2268=
XM_017029601.2:c.6993C>T	XP_016885090.1:p.Asn2331=
XM_017029602.1:c.6963C>T	XP_016885091.1:p.Asn2321=
XM_017029603.1:c.6915C>T	XP_016885092.1:p.Asn2305=
XM_017029604.2:c.6882C>T	XP_016885093.1:p.Asn2294=
XM_017029605.1:c.6879C>T	XP_016885094.1:p.Asn2293=
XM_017029606.2:c.6852C>T	XP_016885095.1:p.Asn2284=
XM_017029607.2:c.6849C>T	XP_016885096.1:p.Asn2283=
XM_017029608.2:c.6801C>T	XP_016885097.1:p.Asn2267=
XM_017029609.1:c.6765C>T	XP_016885098.1:p.Asn2255=
XM_017029610.1:c.6762C>T	XP_016885099.1:p.Asn2254=
XM_017029611.1:c.6717C>T	XP_016885100.1:p.Asn2239=
XR_001755700.2:n.7382C>T
NM_138270.4:c.6969C>T	NP_612114.2:p.Asn2323=
NM_000489.6:c.7083C>T MANE Select	NP_000480.3:p.Asn2361=
NM_138270.5:c.6969C>T	NP_612114.2:p.Asn2323=