Canonical Allele Identifier: CA413704061

Gene: ATRX

Linked Data

• dbSNP Id: rs122445095
• MyVariant Identifiers: chrX:g.76889060C>G (hg19) ; chrX:g.77633572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633572C>G , CM000685.2:g.77633572C>G	GRCh38
NC_000023.10:g.76889060C>G , CM000685.1:g.76889060C>G	GRCh37
NC_000023.9:g.76775716C>G	NCBI36
NG_008838.2:g.157650G>C
NG_008838.3:g.157698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4950G>C MANE Select	ENSP00000362441.4:p.Lys1650Asn
ENST00000675732.1:c.48G>C	ENSP00000502598.1:p.Lys16Asn
ENST00000675908.1:n.685G>C
ENST00000373344.9:c.4950G>C	ENSP00000362441.4:p.Lys1650Asn
ENST00000395603.7:c.4836G>C	ENSP00000378967.3:p.Lys1612Asn
ENST00000480283.5:c.*4578G>C	ENSP00000480196.1:n.*4578G>C
ENST00000623242.3:c.687G>C
ENST00000624403.1:n.294G>C
NM_000489.4:c.4950G>C	NP_000480.3:p.Lys1650Asn
NM_138270.3:c.4836G>C	NP_612114.2:p.Lys1612Asn
XM_005262153.3:c.4947G>C	XP_005262210.2:p.Lys1649Asn
XM_005262154.3:c.4863G>C	XP_005262211.2:p.Lys1621Asn
XM_005262155.3:c.4833G>C	XP_005262212.2:p.Lys1611Asn
XM_005262156.3:c.4785G>C	XP_005262213.2:p.Lys1595Asn
XM_005262157.3:c.4746G>C	XP_005262214.2:p.Lys1582Asn
XM_006724666.2:c.4833G>C	XP_006724729.1:p.Lys1611Asn
XM_006724667.2:c.4671G>C	XP_006724730.1:p.Lys1557Asn
XM_006724668.2:c.4950G>C	XP_006724731.1:p.Lys1650Asn
XR_938400.1:n.5218G>C
NM_000489.5:c.4950G>C	NP_000480.3:p.Lys1650Asn
XM_005262153.5:c.4947G>C	XP_005262210.2:p.Lys1649Asn
XM_005262154.5:c.4863G>C	XP_005262211.2:p.Lys1621Asn
XM_005262155.4:c.4833G>C	XP_005262212.2:p.Lys1611Asn
XM_005262156.4:c.4785G>C	XP_005262213.2:p.Lys1595Asn
XM_005262157.5:c.4746G>C	XP_005262214.2:p.Lys1582Asn
XM_006724666.4:c.4833G>C	XP_006724729.1:p.Lys1611Asn
XM_006724667.3:c.4671G>C	XP_006724730.1:p.Lys1557Asn
XM_006724668.3:c.4950G>C	XP_006724731.1:p.Lys1650Asn
XM_017029601.2:c.4860G>C	XP_016885090.1:p.Lys1620Asn
XM_017029602.1:c.4830G>C	XP_016885091.1:p.Lys1610Asn
XM_017029603.1:c.4782G>C	XP_016885092.1:p.Lys1594Asn
XM_017029604.2:c.4749G>C	XP_016885093.1:p.Lys1583Asn
XM_017029605.1:c.4746G>C	XP_016885094.1:p.Lys1582Asn
XM_017029606.2:c.4719G>C	XP_016885095.1:p.Lys1573Asn
XM_017029607.2:c.4716G>C	XP_016885096.1:p.Lys1572Asn
XM_017029608.2:c.4668G>C	XP_016885097.1:p.Lys1556Asn
XM_017029609.1:c.4632G>C	XP_016885098.1:p.Lys1544Asn
XM_017029610.1:c.4629G>C	XP_016885099.1:p.Lys1543Asn
XM_017029611.1:c.4584G>C	XP_016885100.1:p.Lys1528Asn
XR_001755700.2:n.5175G>C
NM_138270.4:c.4836G>C	NP_612114.2:p.Lys1612Asn
NM_000489.6:c.4950G>C MANE Select	NP_000480.3:p.Lys1650Asn
NM_138270.5:c.4836G>C	NP_612114.2:p.Lys1612Asn