Canonical Allele Identifier: CA413703955

Gene: ATRX

Linked Data

• gnomAD v4: X-77508436-C-G
• MyVariant Identifiers: chrX:g.76763914C>G (hg19) ; chrX:g.77508436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508436C>G , CM000685.2:g.77508436C>G	GRCh38
NC_000023.10:g.76763914C>G , CM000685.1:g.76763914C>G	GRCh37
NC_000023.9:g.76650570C>G	NCBI36
NG_008838.2:g.282786G>C
NG_008838.3:g.282834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7394G>C MANE Select	ENSP00000362441.4:p.Gly2465Ala
ENST00000675732.1:c.2492G>C	ENSP00000502598.1:p.Gly831Ala
ENST00000373344.9:c.7394G>C	ENSP00000362441.4:p.Gly2465Ala
ENST00000395603.7:c.7280G>C	ENSP00000378967.3:p.Gly2427Ala
ENST00000480283.5:c.*7022G>C	ENSP00000480196.1:n.*7022G>C
ENST00000623706.3:n.5714G>C
NM_000489.4:c.7394G>C	NP_000480.3:p.Gly2465Ala
NM_138270.3:c.7280G>C	NP_612114.2:p.Gly2427Ala
XM_005262153.3:c.7391G>C	XP_005262210.2:p.Gly2464Ala
XM_005262154.3:c.7307G>C	XP_005262211.2:p.Gly2436Ala
XM_005262155.3:c.7277G>C	XP_005262212.2:p.Gly2426Ala
XM_005262156.3:c.7229G>C	XP_005262213.2:p.Gly2410Ala
XM_005262157.3:c.7190G>C	XP_005262214.2:p.Gly2397Ala
XM_006724666.2:c.7277G>C	XP_006724729.1:p.Gly2426Ala
XM_006724667.2:c.7115G>C	XP_006724730.1:p.Gly2372Ala
XR_938400.1:n.8986G>C
NM_000489.5:c.7394G>C	NP_000480.3:p.Gly2465Ala
XM_005262153.5:c.7391G>C	XP_005262210.2:p.Gly2464Ala
XM_005262154.5:c.7307G>C	XP_005262211.2:p.Gly2436Ala
XM_005262155.4:c.7277G>C	XP_005262212.2:p.Gly2426Ala
XM_005262156.4:c.7229G>C	XP_005262213.2:p.Gly2410Ala
XM_005262157.5:c.7190G>C	XP_005262214.2:p.Gly2397Ala
XM_006724666.4:c.7277G>C	XP_006724729.1:p.Gly2426Ala
XM_006724667.3:c.7115G>C	XP_006724730.1:p.Gly2372Ala
XM_017029601.2:c.7304G>C	XP_016885090.1:p.Gly2435Ala
XM_017029602.1:c.7274G>C	XP_016885091.1:p.Gly2425Ala
XM_017029603.1:c.7226G>C	XP_016885092.1:p.Gly2409Ala
XM_017029604.2:c.7193G>C	XP_016885093.1:p.Gly2398Ala
XM_017029605.1:c.7190G>C	XP_016885094.1:p.Gly2397Ala
XM_017029606.2:c.7163G>C	XP_016885095.1:p.Gly2388Ala
XM_017029607.2:c.7160G>C	XP_016885096.1:p.Gly2387Ala
XM_017029608.2:c.7112G>C	XP_016885097.1:p.Gly2371Ala
XM_017029609.1:c.7076G>C	XP_016885098.1:p.Gly2359Ala
XM_017029610.1:c.7073G>C	XP_016885099.1:p.Gly2358Ala
XM_017029611.1:c.7028G>C	XP_016885100.1:p.Gly2343Ala
XR_001755700.2:n.7693G>C
NM_138270.4:c.7280G>C	NP_612114.2:p.Gly2427Ala
NM_000489.6:c.7394G>C MANE Select	NP_000480.3:p.Gly2465Ala
NM_138270.5:c.7280G>C	NP_612114.2:p.Gly2427Ala