Canonical Allele Identifier: CA413704074

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648080
• MyVariant Identifiers: chrX:g.76763938C>G (hg19) ; chrX:g.77508460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508460C>G , CM000685.2:g.77508460C>G	GRCh38
NC_000023.10:g.76763938C>G , CM000685.1:g.76763938C>G	GRCh37
NC_000023.9:g.76650594C>G	NCBI36
NG_008838.2:g.282762G>C
NG_008838.3:g.282810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7370G>C MANE Select	ENSP00000362441.4:p.Arg2457Thr
ENST00000675732.1:c.2468G>C	ENSP00000502598.1:p.Arg823Thr
ENST00000373344.9:c.7370G>C	ENSP00000362441.4:p.Arg2457Thr
ENST00000395603.7:c.7256G>C	ENSP00000378967.3:p.Arg2419Thr
ENST00000480283.5:c.*6998G>C	ENSP00000480196.1:n.*6998G>C
ENST00000623706.3:n.5690G>C
NM_000489.4:c.7370G>C	NP_000480.3:p.Arg2457Thr
NM_138270.3:c.7256G>C	NP_612114.2:p.Arg2419Thr
XM_005262153.3:c.7367G>C	XP_005262210.2:p.Arg2456Thr
XM_005262154.3:c.7283G>C	XP_005262211.2:p.Arg2428Thr
XM_005262155.3:c.7253G>C	XP_005262212.2:p.Arg2418Thr
XM_005262156.3:c.7205G>C	XP_005262213.2:p.Arg2402Thr
XM_005262157.3:c.7166G>C	XP_005262214.2:p.Arg2389Thr
XM_006724666.2:c.7253G>C	XP_006724729.1:p.Arg2418Thr
XM_006724667.2:c.7091G>C	XP_006724730.1:p.Arg2364Thr
XR_938400.1:n.8962G>C
NM_000489.5:c.7370G>C	NP_000480.3:p.Arg2457Thr
XM_005262153.5:c.7367G>C	XP_005262210.2:p.Arg2456Thr
XM_005262154.5:c.7283G>C	XP_005262211.2:p.Arg2428Thr
XM_005262155.4:c.7253G>C	XP_005262212.2:p.Arg2418Thr
XM_005262156.4:c.7205G>C	XP_005262213.2:p.Arg2402Thr
XM_005262157.5:c.7166G>C	XP_005262214.2:p.Arg2389Thr
XM_006724666.4:c.7253G>C	XP_006724729.1:p.Arg2418Thr
XM_006724667.3:c.7091G>C	XP_006724730.1:p.Arg2364Thr
XM_017029601.2:c.7280G>C	XP_016885090.1:p.Arg2427Thr
XM_017029602.1:c.7250G>C	XP_016885091.1:p.Arg2417Thr
XM_017029603.1:c.7202G>C	XP_016885092.1:p.Arg2401Thr
XM_017029604.2:c.7169G>C	XP_016885093.1:p.Arg2390Thr
XM_017029605.1:c.7166G>C	XP_016885094.1:p.Arg2389Thr
XM_017029606.2:c.7139G>C	XP_016885095.1:p.Arg2380Thr
XM_017029607.2:c.7136G>C	XP_016885096.1:p.Arg2379Thr
XM_017029608.2:c.7088G>C	XP_016885097.1:p.Arg2363Thr
XM_017029609.1:c.7052G>C	XP_016885098.1:p.Arg2351Thr
XM_017029610.1:c.7049G>C	XP_016885099.1:p.Arg2350Thr
XM_017029611.1:c.7004G>C	XP_016885100.1:p.Arg2335Thr
XR_001755700.2:n.7669G>C
NM_138270.4:c.7256G>C	NP_612114.2:p.Arg2419Thr
NM_000489.6:c.7370G>C MANE Select	NP_000480.3:p.Arg2457Thr
NM_138270.5:c.7256G>C	NP_612114.2:p.Arg2419Thr