Canonical Allele Identifier: CA413704043

Gene: ATRX

Linked Data

• gnomAD v4: X-77508455-T-C
• MyVariant Identifiers: chrX:g.76763933T>C (hg19) ; chrX:g.77508455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508455T>C , CM000685.2:g.77508455T>C	GRCh38
NC_000023.10:g.76763933T>C , CM000685.1:g.76763933T>C	GRCh37
NC_000023.9:g.76650589T>C	NCBI36
NG_008838.2:g.282767A>G
NG_008838.3:g.282815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7375A>G MANE Select	ENSP00000362441.4:p.Met2459Val
ENST00000675732.1:c.2473A>G	ENSP00000502598.1:p.Met825Val
ENST00000373344.9:c.7375A>G	ENSP00000362441.4:p.Met2459Val
ENST00000395603.7:c.7261A>G	ENSP00000378967.3:p.Met2421Val
ENST00000480283.5:c.*7003A>G	ENSP00000480196.1:n.*7003A>G
ENST00000623706.3:n.5695A>G
NM_000489.4:c.7375A>G	NP_000480.3:p.Met2459Val
NM_138270.3:c.7261A>G	NP_612114.2:p.Met2421Val
XM_005262153.3:c.7372A>G	XP_005262210.2:p.Met2458Val
XM_005262154.3:c.7288A>G	XP_005262211.2:p.Met2430Val
XM_005262155.3:c.7258A>G	XP_005262212.2:p.Met2420Val
XM_005262156.3:c.7210A>G	XP_005262213.2:p.Met2404Val
XM_005262157.3:c.7171A>G	XP_005262214.2:p.Met2391Val
XM_006724666.2:c.7258A>G	XP_006724729.1:p.Met2420Val
XM_006724667.2:c.7096A>G	XP_006724730.1:p.Met2366Val
XR_938400.1:n.8967A>G
NM_000489.5:c.7375A>G	NP_000480.3:p.Met2459Val
XM_005262153.5:c.7372A>G	XP_005262210.2:p.Met2458Val
XM_005262154.5:c.7288A>G	XP_005262211.2:p.Met2430Val
XM_005262155.4:c.7258A>G	XP_005262212.2:p.Met2420Val
XM_005262156.4:c.7210A>G	XP_005262213.2:p.Met2404Val
XM_005262157.5:c.7171A>G	XP_005262214.2:p.Met2391Val
XM_006724666.4:c.7258A>G	XP_006724729.1:p.Met2420Val
XM_006724667.3:c.7096A>G	XP_006724730.1:p.Met2366Val
XM_017029601.2:c.7285A>G	XP_016885090.1:p.Met2429Val
XM_017029602.1:c.7255A>G	XP_016885091.1:p.Met2419Val
XM_017029603.1:c.7207A>G	XP_016885092.1:p.Met2403Val
XM_017029604.2:c.7174A>G	XP_016885093.1:p.Met2392Val
XM_017029605.1:c.7171A>G	XP_016885094.1:p.Met2391Val
XM_017029606.2:c.7144A>G	XP_016885095.1:p.Met2382Val
XM_017029607.2:c.7141A>G	XP_016885096.1:p.Met2381Val
XM_017029608.2:c.7093A>G	XP_016885097.1:p.Met2365Val
XM_017029609.1:c.7057A>G	XP_016885098.1:p.Met2353Val
XM_017029610.1:c.7054A>G	XP_016885099.1:p.Met2352Val
XM_017029611.1:c.7009A>G	XP_016885100.1:p.Met2337Val
XR_001755700.2:n.7674A>G
NM_138270.4:c.7261A>G	NP_612114.2:p.Met2421Val
NM_000489.6:c.7375A>G MANE Select	NP_000480.3:p.Met2459Val
NM_138270.5:c.7261A>G	NP_612114.2:p.Met2421Val