Canonical Allele Identifier: CA413703481

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763854C>G (hg19) ; chrX:g.77508376C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508376C>G , CM000685.2:g.77508376C>G	GRCh38
NC_000023.10:g.76763854C>G , CM000685.1:g.76763854C>G	GRCh37
NC_000023.9:g.76650510C>G	NCBI36
NG_008838.2:g.282846G>C
NG_008838.3:g.282894G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7454G>C MANE Select	ENSP00000362441.4:p.Gly2485Ala
ENST00000675732.1:c.2552G>C	ENSP00000502598.1:p.Gly851Ala
ENST00000373344.9:c.7454G>C	ENSP00000362441.4:p.Gly2485Ala
ENST00000395603.7:c.7340G>C	ENSP00000378967.3:p.Gly2447Ala
ENST00000480283.5:c.*7082G>C	ENSP00000480196.1:n.*7082G>C
ENST00000623706.3:n.5774G>C
NM_000489.4:c.7454G>C	NP_000480.3:p.Gly2485Ala
NM_138270.3:c.7340G>C	NP_612114.2:p.Gly2447Ala
XM_005262153.3:c.7451G>C	XP_005262210.2:p.Gly2484Ala
XM_005262154.3:c.7367G>C	XP_005262211.2:p.Gly2456Ala
XM_005262155.3:c.7337G>C	XP_005262212.2:p.Gly2446Ala
XM_005262156.3:c.7289G>C	XP_005262213.2:p.Gly2430Ala
XM_005262157.3:c.7250G>C	XP_005262214.2:p.Gly2417Ala
XM_006724666.2:c.7337G>C	XP_006724729.1:p.Gly2446Ala
XM_006724667.2:c.7175G>C	XP_006724730.1:p.Gly2392Ala
XR_938400.1:n.9046G>C
NM_000489.5:c.7454G>C	NP_000480.3:p.Gly2485Ala
XM_005262153.5:c.7451G>C	XP_005262210.2:p.Gly2484Ala
XM_005262154.5:c.7367G>C	XP_005262211.2:p.Gly2456Ala
XM_005262155.4:c.7337G>C	XP_005262212.2:p.Gly2446Ala
XM_005262156.4:c.7289G>C	XP_005262213.2:p.Gly2430Ala
XM_005262157.5:c.7250G>C	XP_005262214.2:p.Gly2417Ala
XM_006724666.4:c.7337G>C	XP_006724729.1:p.Gly2446Ala
XM_006724667.3:c.7175G>C	XP_006724730.1:p.Gly2392Ala
XM_017029601.2:c.7364G>C	XP_016885090.1:p.Gly2455Ala
XM_017029602.1:c.7334G>C	XP_016885091.1:p.Gly2445Ala
XM_017029603.1:c.7286G>C	XP_016885092.1:p.Gly2429Ala
XM_017029604.2:c.7253G>C	XP_016885093.1:p.Gly2418Ala
XM_017029605.1:c.7250G>C	XP_016885094.1:p.Gly2417Ala
XM_017029606.2:c.7223G>C	XP_016885095.1:p.Gly2408Ala
XM_017029607.2:c.7220G>C	XP_016885096.1:p.Gly2407Ala
XM_017029608.2:c.7172G>C	XP_016885097.1:p.Gly2391Ala
XM_017029609.1:c.7136G>C	XP_016885098.1:p.Gly2379Ala
XM_017029610.1:c.7133G>C	XP_016885099.1:p.Gly2378Ala
XM_017029611.1:c.7088G>C	XP_016885100.1:p.Gly2363Ala
XR_001755700.2:n.7753G>C
NM_138270.4:c.7340G>C	NP_612114.2:p.Gly2447Ala
NM_000489.6:c.7454G>C MANE Select	NP_000480.3:p.Gly2485Ala
NM_138270.5:c.7340G>C	NP_612114.2:p.Gly2447Ala