Canonical Allele Identifier: CA413704136

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648345
• MyVariant Identifiers: chrX:g.76763945C>G (hg19) ; chrX:g.77508467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508467C>G , CM000685.2:g.77508467C>G	GRCh38
NC_000023.10:g.76763945C>G , CM000685.1:g.76763945C>G	GRCh37
NC_000023.9:g.76650601C>G	NCBI36
NG_008838.2:g.282755G>C
NG_008838.3:g.282803G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7363G>C MANE Select	ENSP00000362441.4:p.Asp2455His
ENST00000675732.1:c.2461G>C	ENSP00000502598.1:p.Asp821His
ENST00000373344.9:c.7363G>C	ENSP00000362441.4:p.Asp2455His
ENST00000395603.7:c.7249G>C	ENSP00000378967.3:p.Asp2417His
ENST00000480283.5:c.*6991G>C	ENSP00000480196.1:n.*6991G>C
ENST00000623706.3:n.5683G>C
NM_000489.4:c.7363G>C	NP_000480.3:p.Asp2455His
NM_138270.3:c.7249G>C	NP_612114.2:p.Asp2417His
XM_005262153.3:c.7360G>C	XP_005262210.2:p.Asp2454His
XM_005262154.3:c.7276G>C	XP_005262211.2:p.Asp2426His
XM_005262155.3:c.7246G>C	XP_005262212.2:p.Asp2416His
XM_005262156.3:c.7198G>C	XP_005262213.2:p.Asp2400His
XM_005262157.3:c.7159G>C	XP_005262214.2:p.Asp2387His
XM_006724666.2:c.7246G>C	XP_006724729.1:p.Asp2416His
XM_006724667.2:c.7084G>C	XP_006724730.1:p.Asp2362His
XR_938400.1:n.8955G>C
NM_000489.5:c.7363G>C	NP_000480.3:p.Asp2455His
XM_005262153.5:c.7360G>C	XP_005262210.2:p.Asp2454His
XM_005262154.5:c.7276G>C	XP_005262211.2:p.Asp2426His
XM_005262155.4:c.7246G>C	XP_005262212.2:p.Asp2416His
XM_005262156.4:c.7198G>C	XP_005262213.2:p.Asp2400His
XM_005262157.5:c.7159G>C	XP_005262214.2:p.Asp2387His
XM_006724666.4:c.7246G>C	XP_006724729.1:p.Asp2416His
XM_006724667.3:c.7084G>C	XP_006724730.1:p.Asp2362His
XM_017029601.2:c.7273G>C	XP_016885090.1:p.Asp2425His
XM_017029602.1:c.7243G>C	XP_016885091.1:p.Asp2415His
XM_017029603.1:c.7195G>C	XP_016885092.1:p.Asp2399His
XM_017029604.2:c.7162G>C	XP_016885093.1:p.Asp2388His
XM_017029605.1:c.7159G>C	XP_016885094.1:p.Asp2387His
XM_017029606.2:c.7132G>C	XP_016885095.1:p.Asp2378His
XM_017029607.2:c.7129G>C	XP_016885096.1:p.Asp2377His
XM_017029608.2:c.7081G>C	XP_016885097.1:p.Asp2361His
XM_017029609.1:c.7045G>C	XP_016885098.1:p.Asp2349His
XM_017029610.1:c.7042G>C	XP_016885099.1:p.Asp2348His
XM_017029611.1:c.6997G>C	XP_016885100.1:p.Asp2333His
XR_001755700.2:n.7662G>C
NM_138270.4:c.7249G>C	NP_612114.2:p.Asp2417His
NM_000489.6:c.7363G>C MANE Select	NP_000480.3:p.Asp2455His
NM_138270.5:c.7249G>C	NP_612114.2:p.Asp2417His