Canonical Allele Identifier: CA413704361

Gene: ATRX

Linked Data

• dbSNP Id: rs1045875195
• gnomAD v4: X-77633617-C-T
• MyVariant Identifiers: chrX:g.76889105C>T (hg19) ; chrX:g.77633617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633617C>T , CM000685.2:g.77633617C>T	GRCh38
NC_000023.10:g.76889105C>T , CM000685.1:g.76889105C>T	GRCh37
NC_000023.9:g.76775761C>T	NCBI36
NG_008838.2:g.157605G>A
NG_008838.3:g.157653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4905G>A MANE Select	ENSP00000362441.4:p.Met1635Ile
ENST00000675732.1:c.3G>A	ENSP00000502598.1:p.Met1Ile
ENST00000675908.1:n.640G>A
ENST00000373344.9:c.4905G>A	ENSP00000362441.4:p.Met1635Ile
ENST00000395603.7:c.4791G>A	ENSP00000378967.3:p.Met1597Ile
ENST00000480283.5:c.*4533G>A	ENSP00000480196.1:n.*4533G>A
ENST00000623242.3:c.642G>A
ENST00000624403.1:n.249G>A
NM_000489.4:c.4905G>A	NP_000480.3:p.Met1635Ile
NM_138270.3:c.4791G>A	NP_612114.2:p.Met1597Ile
XM_005262153.3:c.4902G>A	XP_005262210.2:p.Met1634Ile
XM_005262154.3:c.4818G>A	XP_005262211.2:p.Met1606Ile
XM_005262155.3:c.4788G>A	XP_005262212.2:p.Met1596Ile
XM_005262156.3:c.4740G>A	XP_005262213.2:p.Met1580Ile
XM_005262157.3:c.4701G>A	XP_005262214.2:p.Met1567Ile
XM_006724666.2:c.4788G>A	XP_006724729.1:p.Met1596Ile
XM_006724667.2:c.4626G>A	XP_006724730.1:p.Met1542Ile
XM_006724668.2:c.4905G>A	XP_006724731.1:p.Met1635Ile
XR_938400.1:n.5173G>A
NM_000489.5:c.4905G>A	NP_000480.3:p.Met1635Ile
XM_005262153.5:c.4902G>A	XP_005262210.2:p.Met1634Ile
XM_005262154.5:c.4818G>A	XP_005262211.2:p.Met1606Ile
XM_005262155.4:c.4788G>A	XP_005262212.2:p.Met1596Ile
XM_005262156.4:c.4740G>A	XP_005262213.2:p.Met1580Ile
XM_005262157.5:c.4701G>A	XP_005262214.2:p.Met1567Ile
XM_006724666.4:c.4788G>A	XP_006724729.1:p.Met1596Ile
XM_006724667.3:c.4626G>A	XP_006724730.1:p.Met1542Ile
XM_006724668.3:c.4905G>A	XP_006724731.1:p.Met1635Ile
XM_017029601.2:c.4815G>A	XP_016885090.1:p.Met1605Ile
XM_017029602.1:c.4785G>A	XP_016885091.1:p.Met1595Ile
XM_017029603.1:c.4737G>A	XP_016885092.1:p.Met1579Ile
XM_017029604.2:c.4704G>A	XP_016885093.1:p.Met1568Ile
XM_017029605.1:c.4701G>A	XP_016885094.1:p.Met1567Ile
XM_017029606.2:c.4674G>A	XP_016885095.1:p.Met1558Ile
XM_017029607.2:c.4671G>A	XP_016885096.1:p.Met1557Ile
XM_017029608.2:c.4623G>A	XP_016885097.1:p.Met1541Ile
XM_017029609.1:c.4587G>A	XP_016885098.1:p.Met1529Ile
XM_017029610.1:c.4584G>A	XP_016885099.1:p.Met1528Ile
XM_017029611.1:c.4539G>A	XP_016885100.1:p.Met1513Ile
XR_001755700.2:n.5130G>A
NM_138270.4:c.4791G>A	NP_612114.2:p.Met1597Ile
NM_000489.6:c.4905G>A MANE Select	NP_000480.3:p.Met1635Ile
NM_138270.5:c.4791G>A	NP_612114.2:p.Met1597Ile