Canonical Allele Identifier: CA413704006

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763926T>G (hg19) ; chrX:g.77508448T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508448T>G , CM000685.2:g.77508448T>G	GRCh38
NC_000023.10:g.76763926T>G , CM000685.1:g.76763926T>G	GRCh37
NC_000023.9:g.76650582T>G	NCBI36
NG_008838.2:g.282774A>C
NG_008838.3:g.282822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7382A>C MANE Select	ENSP00000362441.4:p.Gln2461Pro
ENST00000675732.1:c.2480A>C	ENSP00000502598.1:p.Gln827Pro
ENST00000373344.9:c.7382A>C	ENSP00000362441.4:p.Gln2461Pro
ENST00000395603.7:c.7268A>C	ENSP00000378967.3:p.Gln2423Pro
ENST00000480283.5:c.*7010A>C	ENSP00000480196.1:n.*7010A>C
ENST00000623706.3:n.5702A>C
NM_000489.4:c.7382A>C	NP_000480.3:p.Gln2461Pro
NM_138270.3:c.7268A>C	NP_612114.2:p.Gln2423Pro
XM_005262153.3:c.7379A>C	XP_005262210.2:p.Gln2460Pro
XM_005262154.3:c.7295A>C	XP_005262211.2:p.Gln2432Pro
XM_005262155.3:c.7265A>C	XP_005262212.2:p.Gln2422Pro
XM_005262156.3:c.7217A>C	XP_005262213.2:p.Gln2406Pro
XM_005262157.3:c.7178A>C	XP_005262214.2:p.Gln2393Pro
XM_006724666.2:c.7265A>C	XP_006724729.1:p.Gln2422Pro
XM_006724667.2:c.7103A>C	XP_006724730.1:p.Gln2368Pro
XR_938400.1:n.8974A>C
NM_000489.5:c.7382A>C	NP_000480.3:p.Gln2461Pro
XM_005262153.5:c.7379A>C	XP_005262210.2:p.Gln2460Pro
XM_005262154.5:c.7295A>C	XP_005262211.2:p.Gln2432Pro
XM_005262155.4:c.7265A>C	XP_005262212.2:p.Gln2422Pro
XM_005262156.4:c.7217A>C	XP_005262213.2:p.Gln2406Pro
XM_005262157.5:c.7178A>C	XP_005262214.2:p.Gln2393Pro
XM_006724666.4:c.7265A>C	XP_006724729.1:p.Gln2422Pro
XM_006724667.3:c.7103A>C	XP_006724730.1:p.Gln2368Pro
XM_017029601.2:c.7292A>C	XP_016885090.1:p.Gln2431Pro
XM_017029602.1:c.7262A>C	XP_016885091.1:p.Gln2421Pro
XM_017029603.1:c.7214A>C	XP_016885092.1:p.Gln2405Pro
XM_017029604.2:c.7181A>C	XP_016885093.1:p.Gln2394Pro
XM_017029605.1:c.7178A>C	XP_016885094.1:p.Gln2393Pro
XM_017029606.2:c.7151A>C	XP_016885095.1:p.Gln2384Pro
XM_017029607.2:c.7148A>C	XP_016885096.1:p.Gln2383Pro
XM_017029608.2:c.7100A>C	XP_016885097.1:p.Gln2367Pro
XM_017029609.1:c.7064A>C	XP_016885098.1:p.Gln2355Pro
XM_017029610.1:c.7061A>C	XP_016885099.1:p.Gln2354Pro
XM_017029611.1:c.7016A>C	XP_016885100.1:p.Gln2339Pro
XR_001755700.2:n.7681A>C
NM_138270.4:c.7268A>C	NP_612114.2:p.Gln2423Pro
NM_000489.6:c.7382A>C MANE Select	NP_000480.3:p.Gln2461Pro
NM_138270.5:c.7268A>C	NP_612114.2:p.Gln2423Pro