Canonical Allele Identifier: CA413703340

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763832C>G (hg19) ; chrX:g.77508354C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508354C>G , CM000685.2:g.77508354C>G	GRCh38
NC_000023.10:g.76763832C>G , CM000685.1:g.76763832C>G	GRCh37
NC_000023.9:g.76650488C>G	NCBI36
NG_008838.2:g.282868G>C
NG_008838.3:g.282916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7476G>C MANE Select	ENSP00000362441.4:p.Met2492Ile
ENST00000675732.1:c.2574G>C	ENSP00000502598.1:p.Met858Ile
ENST00000373344.9:c.7476G>C	ENSP00000362441.4:p.Met2492Ile
ENST00000395603.7:c.7362G>C	ENSP00000378967.3:p.Met2454Ile
ENST00000480283.5:c.*7104G>C	ENSP00000480196.1:n.*7104G>C
ENST00000623706.3:n.5796G>C
NM_000489.4:c.7476G>C	NP_000480.3:p.Met2492Ile
NM_138270.3:c.7362G>C	NP_612114.2:p.Met2454Ile
XM_005262153.3:c.7473G>C	XP_005262210.2:p.Met2491Ile
XM_005262154.3:c.7389G>C	XP_005262211.2:p.Met2463Ile
XM_005262155.3:c.7359G>C	XP_005262212.2:p.Met2453Ile
XM_005262156.3:c.7311G>C	XP_005262213.2:p.Met2437Ile
XM_005262157.3:c.7272G>C	XP_005262214.2:p.Met2424Ile
XM_006724666.2:c.7359G>C	XP_006724729.1:p.Met2453Ile
XM_006724667.2:c.7197G>C	XP_006724730.1:p.Met2399Ile
XR_938400.1:n.9068G>C
NM_000489.5:c.7476G>C	NP_000480.3:p.Met2492Ile
XM_005262153.5:c.7473G>C	XP_005262210.2:p.Met2491Ile
XM_005262154.5:c.7389G>C	XP_005262211.2:p.Met2463Ile
XM_005262155.4:c.7359G>C	XP_005262212.2:p.Met2453Ile
XM_005262156.4:c.7311G>C	XP_005262213.2:p.Met2437Ile
XM_005262157.5:c.7272G>C	XP_005262214.2:p.Met2424Ile
XM_006724666.4:c.7359G>C	XP_006724729.1:p.Met2453Ile
XM_006724667.3:c.7197G>C	XP_006724730.1:p.Met2399Ile
XM_017029601.2:c.7386G>C	XP_016885090.1:p.Met2462Ile
XM_017029602.1:c.7356G>C	XP_016885091.1:p.Met2452Ile
XM_017029603.1:c.7308G>C	XP_016885092.1:p.Met2436Ile
XM_017029604.2:c.7275G>C	XP_016885093.1:p.Met2425Ile
XM_017029605.1:c.7272G>C	XP_016885094.1:p.Met2424Ile
XM_017029606.2:c.7245G>C	XP_016885095.1:p.Met2415Ile
XM_017029607.2:c.7242G>C	XP_016885096.1:p.Met2414Ile
XM_017029608.2:c.7194G>C	XP_016885097.1:p.Met2398Ile
XM_017029609.1:c.7158G>C	XP_016885098.1:p.Met2386Ile
XM_017029610.1:c.7155G>C	XP_016885099.1:p.Met2385Ile
XM_017029611.1:c.7110G>C	XP_016885100.1:p.Met2370Ile
XR_001755700.2:n.7775G>C
NM_138270.4:c.7362G>C	NP_612114.2:p.Met2454Ile
NM_000489.6:c.7476G>C MANE Select	NP_000480.3:p.Met2492Ile
NM_138270.5:c.7362G>C	NP_612114.2:p.Met2454Ile