Canonical Allele Identifier: CA413703476

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763852G>T (hg19) ; chrX:g.77508374G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508374G>T , CM000685.2:g.77508374G>T	GRCh38
NC_000023.10:g.76763852G>T , CM000685.1:g.76763852G>T	GRCh37
NC_000023.9:g.76650508G>T	NCBI36
NG_008838.2:g.282848C>A
NG_008838.3:g.282896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7456C>A MANE Select	ENSP00000362441.4:p.Pro2486Thr
ENST00000675732.1:c.2554C>A	ENSP00000502598.1:p.Pro852Thr
ENST00000373344.9:c.7456C>A	ENSP00000362441.4:p.Pro2486Thr
ENST00000395603.7:c.7342C>A	ENSP00000378967.3:p.Pro2448Thr
ENST00000480283.5:c.*7084C>A	ENSP00000480196.1:n.*7084C>A
ENST00000623706.3:n.5776C>A
NM_000489.4:c.7456C>A	NP_000480.3:p.Pro2486Thr
NM_138270.3:c.7342C>A	NP_612114.2:p.Pro2448Thr
XM_005262153.3:c.7453C>A	XP_005262210.2:p.Pro2485Thr
XM_005262154.3:c.7369C>A	XP_005262211.2:p.Pro2457Thr
XM_005262155.3:c.7339C>A	XP_005262212.2:p.Pro2447Thr
XM_005262156.3:c.7291C>A	XP_005262213.2:p.Pro2431Thr
XM_005262157.3:c.7252C>A	XP_005262214.2:p.Pro2418Thr
XM_006724666.2:c.7339C>A	XP_006724729.1:p.Pro2447Thr
XM_006724667.2:c.7177C>A	XP_006724730.1:p.Pro2393Thr
XR_938400.1:n.9048C>A
NM_000489.5:c.7456C>A	NP_000480.3:p.Pro2486Thr
XM_005262153.5:c.7453C>A	XP_005262210.2:p.Pro2485Thr
XM_005262154.5:c.7369C>A	XP_005262211.2:p.Pro2457Thr
XM_005262155.4:c.7339C>A	XP_005262212.2:p.Pro2447Thr
XM_005262156.4:c.7291C>A	XP_005262213.2:p.Pro2431Thr
XM_005262157.5:c.7252C>A	XP_005262214.2:p.Pro2418Thr
XM_006724666.4:c.7339C>A	XP_006724729.1:p.Pro2447Thr
XM_006724667.3:c.7177C>A	XP_006724730.1:p.Pro2393Thr
XM_017029601.2:c.7366C>A	XP_016885090.1:p.Pro2456Thr
XM_017029602.1:c.7336C>A	XP_016885091.1:p.Pro2446Thr
XM_017029603.1:c.7288C>A	XP_016885092.1:p.Pro2430Thr
XM_017029604.2:c.7255C>A	XP_016885093.1:p.Pro2419Thr
XM_017029605.1:c.7252C>A	XP_016885094.1:p.Pro2418Thr
XM_017029606.2:c.7225C>A	XP_016885095.1:p.Pro2409Thr
XM_017029607.2:c.7222C>A	XP_016885096.1:p.Pro2408Thr
XM_017029608.2:c.7174C>A	XP_016885097.1:p.Pro2392Thr
XM_017029609.1:c.7138C>A	XP_016885098.1:p.Pro2380Thr
XM_017029610.1:c.7135C>A	XP_016885099.1:p.Pro2379Thr
XM_017029611.1:c.7090C>A	XP_016885100.1:p.Pro2364Thr
XR_001755700.2:n.7755C>A
NM_138270.4:c.7342C>A	NP_612114.2:p.Pro2448Thr
NM_000489.6:c.7456C>A MANE Select	NP_000480.3:p.Pro2486Thr
NM_138270.5:c.7342C>A	NP_612114.2:p.Pro2448Thr