Canonical Allele Identifier: CA413722490

Gene: ATRX

Linked Data

• dbSNP Id: rs122445103
• MyVariant Identifiers: chrX:g.76944337G>A (hg19) ; chrX:g.77688844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688844G>A , CM000685.2:g.77688844G>A	GRCh38
NC_000023.10:g.76944337G>A , CM000685.1:g.76944337G>A	GRCh37
NC_000023.9:g.76830993G>A	NCBI36
NG_008838.2:g.102378C>T
NG_008838.3:g.102426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.568C>T MANE Select	ENSP00000362441.4:p.Pro190Ser
ENST00000373344.9:c.568C>T	ENSP00000362441.4:p.Pro190Ser
ENST00000395603.7:c.454C>T	ENSP00000378967.3:p.Pro152Ser
ENST00000480283.5:c.*196C>T	ENSP00000480196.1:n.*196C>T
ENST00000623321.3:c.403C>T	ENSP00000485127.1:p.Pro135Ser
ENST00000624032.3:c.568C>T	ENSP00000485253.1:p.Pro190Ser
ENST00000624166.3:c.451C>T	ENSP00000485103.1:p.Pro151Ser
ENST00000624668.3:c.289C>T	ENSP00000485100.1:p.Pro97Ser
ENST00000625063.3:c.383C>T
NM_000489.4:c.568C>T	NP_000480.3:p.Pro190Ser
NM_138270.3:c.454C>T	NP_612114.2:p.Pro152Ser
XM_005262153.3:c.565C>T	XP_005262210.2:p.Pro189Ser
XM_005262154.3:c.568C>T	XP_005262211.2:p.Pro190Ser
XM_005262155.3:c.451C>T	XP_005262212.2:p.Pro151Ser
XM_005262156.3:c.403C>T	XP_005262213.2:p.Pro135Ser
XM_005262157.3:c.451C>T	XP_005262214.2:p.Pro151Ser
XM_006724666.2:c.451C>T	XP_006724729.1:p.Pro151Ser
XM_006724667.2:c.289C>T	XP_006724730.1:p.Pro97Ser
XM_006724668.2:c.568C>T	XP_006724731.1:p.Pro190Ser
XR_938400.1:n.836C>T
NM_000489.5:c.568C>T	NP_000480.3:p.Pro190Ser
XM_005262153.5:c.565C>T	XP_005262210.2:p.Pro189Ser
XM_005262154.5:c.568C>T	XP_005262211.2:p.Pro190Ser
XM_005262155.4:c.451C>T	XP_005262212.2:p.Pro151Ser
XM_005262156.4:c.403C>T	XP_005262213.2:p.Pro135Ser
XM_005262157.5:c.451C>T	XP_005262214.2:p.Pro151Ser
XM_006724666.4:c.451C>T	XP_006724729.1:p.Pro151Ser
XM_006724667.3:c.289C>T	XP_006724730.1:p.Pro97Ser
XM_006724668.3:c.568C>T	XP_006724731.1:p.Pro190Ser
XM_017029601.2:c.565C>T	XP_016885090.1:p.Pro189Ser
XM_017029602.1:c.448C>T	XP_016885091.1:p.Pro150Ser
XM_017029603.1:c.400C>T	XP_016885092.1:p.Pro134Ser
XM_017029604.2:c.454C>T	XP_016885093.1:p.Pro152Ser
XM_017029605.1:c.451C>T	XP_016885094.1:p.Pro151Ser
XM_017029606.2:c.337C>T	XP_016885095.1:p.Pro113Ser
XM_017029607.2:c.334C>T	XP_016885096.1:p.Pro112Ser
XM_017029608.2:c.286C>T	XP_016885097.1:p.Pro96Ser
XM_017029609.1:c.337C>T	XP_016885098.1:p.Pro113Ser
XM_017029610.1:c.334C>T	XP_016885099.1:p.Pro112Ser
XM_017029611.1:c.289C>T	XP_016885100.1:p.Pro97Ser
XR_001755700.2:n.793C>T
NM_138270.4:c.454C>T	NP_612114.2:p.Pro152Ser
NM_000489.6:c.568C>T MANE Select	NP_000480.3:p.Pro190Ser
NM_138270.5:c.454C>T	NP_612114.2:p.Pro152Ser