Canonical Allele Identifier: CA413703629

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2832232
• ClinVar RCV Id: RCV003625532
• MyVariant Identifiers: chrX:g.76763872A>G (hg19) ; chrX:g.77508394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508394A>G , CM000685.2:g.77508394A>G	GRCh38
NC_000023.10:g.76763872A>G , CM000685.1:g.76763872A>G	GRCh37
NC_000023.9:g.76650528A>G	NCBI36
NG_008838.2:g.282828T>C
NG_008838.3:g.282876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7436T>C MANE Select	ENSP00000362441.4:p.Met2479Thr
ENST00000675732.1:c.2534T>C	ENSP00000502598.1:p.Met845Thr
ENST00000373344.9:c.7436T>C	ENSP00000362441.4:p.Met2479Thr
ENST00000395603.7:c.7322T>C	ENSP00000378967.3:p.Met2441Thr
ENST00000480283.5:c.*7064T>C	ENSP00000480196.1:n.*7064T>C
ENST00000623706.3:n.5756T>C
NM_000489.4:c.7436T>C	NP_000480.3:p.Met2479Thr
NM_138270.3:c.7322T>C	NP_612114.2:p.Met2441Thr
XM_005262153.3:c.7433T>C	XP_005262210.2:p.Met2478Thr
XM_005262154.3:c.7349T>C	XP_005262211.2:p.Met2450Thr
XM_005262155.3:c.7319T>C	XP_005262212.2:p.Met2440Thr
XM_005262156.3:c.7271T>C	XP_005262213.2:p.Met2424Thr
XM_005262157.3:c.7232T>C	XP_005262214.2:p.Met2411Thr
XM_006724666.2:c.7319T>C	XP_006724729.1:p.Met2440Thr
XM_006724667.2:c.7157T>C	XP_006724730.1:p.Met2386Thr
XR_938400.1:n.9028T>C
NM_000489.5:c.7436T>C	NP_000480.3:p.Met2479Thr
XM_005262153.5:c.7433T>C	XP_005262210.2:p.Met2478Thr
XM_005262154.5:c.7349T>C	XP_005262211.2:p.Met2450Thr
XM_005262155.4:c.7319T>C	XP_005262212.2:p.Met2440Thr
XM_005262156.4:c.7271T>C	XP_005262213.2:p.Met2424Thr
XM_005262157.5:c.7232T>C	XP_005262214.2:p.Met2411Thr
XM_006724666.4:c.7319T>C	XP_006724729.1:p.Met2440Thr
XM_006724667.3:c.7157T>C	XP_006724730.1:p.Met2386Thr
XM_017029601.2:c.7346T>C	XP_016885090.1:p.Met2449Thr
XM_017029602.1:c.7316T>C	XP_016885091.1:p.Met2439Thr
XM_017029603.1:c.7268T>C	XP_016885092.1:p.Met2423Thr
XM_017029604.2:c.7235T>C	XP_016885093.1:p.Met2412Thr
XM_017029605.1:c.7232T>C	XP_016885094.1:p.Met2411Thr
XM_017029606.2:c.7205T>C	XP_016885095.1:p.Met2402Thr
XM_017029607.2:c.7202T>C	XP_016885096.1:p.Met2401Thr
XM_017029608.2:c.7154T>C	XP_016885097.1:p.Met2385Thr
XM_017029609.1:c.7118T>C	XP_016885098.1:p.Met2373Thr
XM_017029610.1:c.7115T>C	XP_016885099.1:p.Met2372Thr
XM_017029611.1:c.7070T>C	XP_016885100.1:p.Met2357Thr
XR_001755700.2:n.7735T>C
NM_138270.4:c.7322T>C	NP_612114.2:p.Met2441Thr
NM_000489.6:c.7436T>C MANE Select	NP_000480.3:p.Met2479Thr
NM_138270.5:c.7322T>C	NP_612114.2:p.Met2441Thr