Canonical Allele Identifier: CA413704688

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764017C>G (hg19) ; chrX:g.77508539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508539C>G , CM000685.2:g.77508539C>G	GRCh38
NC_000023.10:g.76764017C>G , CM000685.1:g.76764017C>G	GRCh37
NC_000023.9:g.76650673C>G	NCBI36
NG_008838.2:g.282683G>C
NG_008838.3:g.282731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7291G>C MANE Select	ENSP00000362441.4:p.Ala2431Pro
ENST00000675732.1:c.2389G>C	ENSP00000502598.1:p.Ala797Pro
ENST00000373344.9:c.7291G>C	ENSP00000362441.4:p.Ala2431Pro
ENST00000395603.7:c.7177G>C	ENSP00000378967.3:p.Ala2393Pro
ENST00000480283.5:c.*6919G>C	ENSP00000480196.1:n.*6919G>C
ENST00000623706.3:n.5611G>C
ENST00000624766.1:n.522G>C
NM_000489.4:c.7291G>C	NP_000480.3:p.Ala2431Pro
NM_138270.3:c.7177G>C	NP_612114.2:p.Ala2393Pro
XM_005262153.3:c.7288G>C	XP_005262210.2:p.Ala2430Pro
XM_005262154.3:c.7204G>C	XP_005262211.2:p.Ala2402Pro
XM_005262155.3:c.7174G>C	XP_005262212.2:p.Ala2392Pro
XM_005262156.3:c.7126G>C	XP_005262213.2:p.Ala2376Pro
XM_005262157.3:c.7087G>C	XP_005262214.2:p.Ala2363Pro
XM_006724666.2:c.7174G>C	XP_006724729.1:p.Ala2392Pro
XM_006724667.2:c.7012G>C	XP_006724730.1:p.Ala2338Pro
XR_938400.1:n.8883G>C
NM_000489.5:c.7291G>C	NP_000480.3:p.Ala2431Pro
XM_005262153.5:c.7288G>C	XP_005262210.2:p.Ala2430Pro
XM_005262154.5:c.7204G>C	XP_005262211.2:p.Ala2402Pro
XM_005262155.4:c.7174G>C	XP_005262212.2:p.Ala2392Pro
XM_005262156.4:c.7126G>C	XP_005262213.2:p.Ala2376Pro
XM_005262157.5:c.7087G>C	XP_005262214.2:p.Ala2363Pro
XM_006724666.4:c.7174G>C	XP_006724729.1:p.Ala2392Pro
XM_006724667.3:c.7012G>C	XP_006724730.1:p.Ala2338Pro
XM_017029601.2:c.7201G>C	XP_016885090.1:p.Ala2401Pro
XM_017029602.1:c.7171G>C	XP_016885091.1:p.Ala2391Pro
XM_017029603.1:c.7123G>C	XP_016885092.1:p.Ala2375Pro
XM_017029604.2:c.7090G>C	XP_016885093.1:p.Ala2364Pro
XM_017029605.1:c.7087G>C	XP_016885094.1:p.Ala2363Pro
XM_017029606.2:c.7060G>C	XP_016885095.1:p.Ala2354Pro
XM_017029607.2:c.7057G>C	XP_016885096.1:p.Ala2353Pro
XM_017029608.2:c.7009G>C	XP_016885097.1:p.Ala2337Pro
XM_017029609.1:c.6973G>C	XP_016885098.1:p.Ala2325Pro
XM_017029610.1:c.6970G>C	XP_016885099.1:p.Ala2324Pro
XM_017029611.1:c.6925G>C	XP_016885100.1:p.Ala2309Pro
XR_001755700.2:n.7590G>C
NM_138270.4:c.7177G>C	NP_612114.2:p.Ala2393Pro
NM_000489.6:c.7291G>C MANE Select	NP_000480.3:p.Ala2431Pro
NM_138270.5:c.7177G>C	NP_612114.2:p.Ala2393Pro