Canonical Allele Identifier: CA413707225

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776334C>G (hg19) ; chrX:g.77520856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520856C>G , CM000685.2:g.77520856C>G	GRCh38
NC_000023.10:g.76776334C>G , CM000685.1:g.76776334C>G	GRCh37
NC_000023.9:g.76662990C>G	NCBI36
NG_008838.2:g.270366G>C
NG_008838.3:g.270414G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7132G>C MANE Select	ENSP00000362441.4:p.Ala2378Pro
ENST00000675732.1:c.2230G>C	ENSP00000502598.1:p.Ala744Pro
ENST00000373344.9:c.7132G>C	ENSP00000362441.4:p.Ala2378Pro
ENST00000395603.7:c.7018G>C	ENSP00000378967.3:p.Ala2340Pro
ENST00000480283.5:c.*6760G>C	ENSP00000480196.1:n.*6760G>C
ENST00000623706.3:n.5452G>C
ENST00000624766.1:n.363G>C
NM_000489.4:c.7132G>C	NP_000480.3:p.Ala2378Pro
NM_138270.3:c.7018G>C	NP_612114.2:p.Ala2340Pro
XM_005262153.3:c.7129G>C	XP_005262210.2:p.Ala2377Pro
XM_005262154.3:c.7045G>C	XP_005262211.2:p.Ala2349Pro
XM_005262155.3:c.7015G>C	XP_005262212.2:p.Ala2339Pro
XM_005262156.3:c.6967G>C	XP_005262213.2:p.Ala2323Pro
XM_005262157.3:c.6928G>C	XP_005262214.2:p.Ala2310Pro
XM_006724666.2:c.7015G>C	XP_006724729.1:p.Ala2339Pro
XM_006724667.2:c.6853G>C	XP_006724730.1:p.Ala2285Pro
XR_938400.1:n.8724G>C
NM_000489.5:c.7132G>C	NP_000480.3:p.Ala2378Pro
XM_005262153.5:c.7129G>C	XP_005262210.2:p.Ala2377Pro
XM_005262154.5:c.7045G>C	XP_005262211.2:p.Ala2349Pro
XM_005262155.4:c.7015G>C	XP_005262212.2:p.Ala2339Pro
XM_005262156.4:c.6967G>C	XP_005262213.2:p.Ala2323Pro
XM_005262157.5:c.6928G>C	XP_005262214.2:p.Ala2310Pro
XM_006724666.4:c.7015G>C	XP_006724729.1:p.Ala2339Pro
XM_006724667.3:c.6853G>C	XP_006724730.1:p.Ala2285Pro
XM_017029601.2:c.7042G>C	XP_016885090.1:p.Ala2348Pro
XM_017029602.1:c.7012G>C	XP_016885091.1:p.Ala2338Pro
XM_017029603.1:c.6964G>C	XP_016885092.1:p.Ala2322Pro
XM_017029604.2:c.6931G>C	XP_016885093.1:p.Ala2311Pro
XM_017029605.1:c.6928G>C	XP_016885094.1:p.Ala2310Pro
XM_017029606.2:c.6901G>C	XP_016885095.1:p.Ala2301Pro
XM_017029607.2:c.6898G>C	XP_016885096.1:p.Ala2300Pro
XM_017029608.2:c.6850G>C	XP_016885097.1:p.Ala2284Pro
XM_017029609.1:c.6814G>C	XP_016885098.1:p.Ala2272Pro
XM_017029610.1:c.6811G>C	XP_016885099.1:p.Ala2271Pro
XM_017029611.1:c.6766G>C	XP_016885100.1:p.Ala2256Pro
XR_001755700.2:n.7431G>C
NM_138270.4:c.7018G>C	NP_612114.2:p.Ala2340Pro
NM_000489.6:c.7132G>C MANE Select	NP_000480.3:p.Ala2378Pro
NM_138270.5:c.7018G>C	NP_612114.2:p.Ala2340Pro