Canonical Allele Identifier: CA413720585

Gene: ATRX

Linked Data

• dbSNP Id: rs782487127
• MyVariant Identifiers: chrX:g.76939933G>A (hg19) ; chrX:g.77684441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684441G>A , CM000685.2:g.77684441G>A	GRCh38
NC_000023.10:g.76939933G>A , CM000685.1:g.76939933G>A	GRCh37
NC_000023.9:g.76826589G>A	NCBI36
NG_008838.2:g.106781C>T
NG_008838.3:g.106829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.815C>T MANE Select	ENSP00000362441.4:p.Pro272Leu
ENST00000373344.9:c.815C>T	ENSP00000362441.4:p.Pro272Leu
ENST00000395603.7:c.701C>T	ENSP00000378967.3:p.Pro234Leu
ENST00000480283.5:c.*443C>T	ENSP00000480196.1:n.*443C>T
ENST00000623321.3:c.650C>T	ENSP00000485127.1:p.Pro217Leu
ENST00000624032.3:c.815C>T	ENSP00000485253.1:p.Pro272Leu
ENST00000624166.3:c.698C>T	ENSP00000485103.1:p.Pro233Leu
NM_000489.4:c.815C>T	NP_000480.3:p.Pro272Leu
NM_138270.3:c.701C>T	NP_612114.2:p.Pro234Leu
XM_005262153.3:c.812C>T	XP_005262210.2:p.Pro271Leu
XM_005262154.3:c.815C>T	XP_005262211.2:p.Pro272Leu
XM_005262155.3:c.698C>T	XP_005262212.2:p.Pro233Leu
XM_005262156.3:c.650C>T	XP_005262213.2:p.Pro217Leu
XM_005262157.3:c.698C>T	XP_005262214.2:p.Pro233Leu
XM_006724666.2:c.698C>T	XP_006724729.1:p.Pro233Leu
XM_006724667.2:c.536C>T	XP_006724730.1:p.Pro179Leu
XM_006724668.2:c.815C>T	XP_006724731.1:p.Pro272Leu
XR_938400.1:n.1083C>T
NM_000489.5:c.815C>T	NP_000480.3:p.Pro272Leu
XM_005262153.5:c.812C>T	XP_005262210.2:p.Pro271Leu
XM_005262154.5:c.815C>T	XP_005262211.2:p.Pro272Leu
XM_005262155.4:c.698C>T	XP_005262212.2:p.Pro233Leu
XM_005262156.4:c.650C>T	XP_005262213.2:p.Pro217Leu
XM_005262157.5:c.698C>T	XP_005262214.2:p.Pro233Leu
XM_006724666.4:c.698C>T	XP_006724729.1:p.Pro233Leu
XM_006724667.3:c.536C>T	XP_006724730.1:p.Pro179Leu
XM_006724668.3:c.815C>T	XP_006724731.1:p.Pro272Leu
XM_017029601.2:c.812C>T	XP_016885090.1:p.Pro271Leu
XM_017029602.1:c.695C>T	XP_016885091.1:p.Pro232Leu
XM_017029603.1:c.647C>T	XP_016885092.1:p.Pro216Leu
XM_017029604.2:c.701C>T	XP_016885093.1:p.Pro234Leu
XM_017029605.1:c.698C>T	XP_016885094.1:p.Pro233Leu
XM_017029606.2:c.584C>T	XP_016885095.1:p.Pro195Leu
XM_017029607.2:c.581C>T	XP_016885096.1:p.Pro194Leu
XM_017029608.2:c.533C>T	XP_016885097.1:p.Pro178Leu
XM_017029609.1:c.584C>T	XP_016885098.1:p.Pro195Leu
XM_017029610.1:c.581C>T	XP_016885099.1:p.Pro194Leu
XM_017029611.1:c.536C>T	XP_016885100.1:p.Pro179Leu
XR_001755700.2:n.1040C>T
NM_138270.4:c.701C>T	NP_612114.2:p.Pro234Leu
NM_000489.6:c.815C>T MANE Select	NP_000480.3:p.Pro272Leu
NM_138270.5:c.701C>T	NP_612114.2:p.Pro234Leu