Canonical Allele Identifier: CA413703463

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763851G>C (hg19) ; chrX:g.77508373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508373G>C , CM000685.2:g.77508373G>C	GRCh38
NC_000023.10:g.76763851G>C , CM000685.1:g.76763851G>C	GRCh37
NC_000023.9:g.76650507G>C	NCBI36
NG_008838.2:g.282849C>G
NG_008838.3:g.282897C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7457C>G MANE Select	ENSP00000362441.4:p.Pro2486Arg
ENST00000675732.1:c.2555C>G	ENSP00000502598.1:p.Pro852Arg
ENST00000373344.9:c.7457C>G	ENSP00000362441.4:p.Pro2486Arg
ENST00000395603.7:c.7343C>G	ENSP00000378967.3:p.Pro2448Arg
ENST00000480283.5:c.*7085C>G	ENSP00000480196.1:n.*7085C>G
ENST00000623706.3:n.5777C>G
NM_000489.4:c.7457C>G	NP_000480.3:p.Pro2486Arg
NM_138270.3:c.7343C>G	NP_612114.2:p.Pro2448Arg
XM_005262153.3:c.7454C>G	XP_005262210.2:p.Pro2485Arg
XM_005262154.3:c.7370C>G	XP_005262211.2:p.Pro2457Arg
XM_005262155.3:c.7340C>G	XP_005262212.2:p.Pro2447Arg
XM_005262156.3:c.7292C>G	XP_005262213.2:p.Pro2431Arg
XM_005262157.3:c.7253C>G	XP_005262214.2:p.Pro2418Arg
XM_006724666.2:c.7340C>G	XP_006724729.1:p.Pro2447Arg
XM_006724667.2:c.7178C>G	XP_006724730.1:p.Pro2393Arg
XR_938400.1:n.9049C>G
NM_000489.5:c.7457C>G	NP_000480.3:p.Pro2486Arg
XM_005262153.5:c.7454C>G	XP_005262210.2:p.Pro2485Arg
XM_005262154.5:c.7370C>G	XP_005262211.2:p.Pro2457Arg
XM_005262155.4:c.7340C>G	XP_005262212.2:p.Pro2447Arg
XM_005262156.4:c.7292C>G	XP_005262213.2:p.Pro2431Arg
XM_005262157.5:c.7253C>G	XP_005262214.2:p.Pro2418Arg
XM_006724666.4:c.7340C>G	XP_006724729.1:p.Pro2447Arg
XM_006724667.3:c.7178C>G	XP_006724730.1:p.Pro2393Arg
XM_017029601.2:c.7367C>G	XP_016885090.1:p.Pro2456Arg
XM_017029602.1:c.7337C>G	XP_016885091.1:p.Pro2446Arg
XM_017029603.1:c.7289C>G	XP_016885092.1:p.Pro2430Arg
XM_017029604.2:c.7256C>G	XP_016885093.1:p.Pro2419Arg
XM_017029605.1:c.7253C>G	XP_016885094.1:p.Pro2418Arg
XM_017029606.2:c.7226C>G	XP_016885095.1:p.Pro2409Arg
XM_017029607.2:c.7223C>G	XP_016885096.1:p.Pro2408Arg
XM_017029608.2:c.7175C>G	XP_016885097.1:p.Pro2392Arg
XM_017029609.1:c.7139C>G	XP_016885098.1:p.Pro2380Arg
XM_017029610.1:c.7136C>G	XP_016885099.1:p.Pro2379Arg
XM_017029611.1:c.7091C>G	XP_016885100.1:p.Pro2364Arg
XR_001755700.2:n.7756C>G
NM_138270.4:c.7343C>G	NP_612114.2:p.Pro2448Arg
NM_000489.6:c.7457C>G MANE Select	NP_000480.3:p.Pro2486Arg
NM_138270.5:c.7343C>G	NP_612114.2:p.Pro2448Arg