Canonical Allele Identifier: CA413704936

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651731
• MyVariant Identifiers: chrX:g.76764048C>G (hg19) ; chrX:g.77508570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508570C>G , CM000685.2:g.77508570C>G	GRCh38
NC_000023.10:g.76764048C>G , CM000685.1:g.76764048C>G	GRCh37
NC_000023.9:g.76650704C>G	NCBI36
NG_008838.2:g.282652G>C
NG_008838.3:g.282700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7260G>C MANE Select	ENSP00000362441.4:p.Gln2420His
ENST00000675732.1:c.2358G>C	ENSP00000502598.1:p.Gln786His
ENST00000373344.9:c.7260G>C	ENSP00000362441.4:p.Gln2420His
ENST00000395603.7:c.7146G>C	ENSP00000378967.3:p.Gln2382His
ENST00000480283.5:c.*6888G>C	ENSP00000480196.1:n.*6888G>C
ENST00000623706.3:n.5580G>C
ENST00000624766.1:n.491G>C
NM_000489.4:c.7260G>C	NP_000480.3:p.Gln2420His
NM_138270.3:c.7146G>C	NP_612114.2:p.Gln2382His
XM_005262153.3:c.7257G>C	XP_005262210.2:p.Gln2419His
XM_005262154.3:c.7173G>C	XP_005262211.2:p.Gln2391His
XM_005262155.3:c.7143G>C	XP_005262212.2:p.Gln2381His
XM_005262156.3:c.7095G>C	XP_005262213.2:p.Gln2365His
XM_005262157.3:c.7056G>C	XP_005262214.2:p.Gln2352His
XM_006724666.2:c.7143G>C	XP_006724729.1:p.Gln2381His
XM_006724667.2:c.6981G>C	XP_006724730.1:p.Gln2327His
XR_938400.1:n.8852G>C
NM_000489.5:c.7260G>C	NP_000480.3:p.Gln2420His
XM_005262153.5:c.7257G>C	XP_005262210.2:p.Gln2419His
XM_005262154.5:c.7173G>C	XP_005262211.2:p.Gln2391His
XM_005262155.4:c.7143G>C	XP_005262212.2:p.Gln2381His
XM_005262156.4:c.7095G>C	XP_005262213.2:p.Gln2365His
XM_005262157.5:c.7056G>C	XP_005262214.2:p.Gln2352His
XM_006724666.4:c.7143G>C	XP_006724729.1:p.Gln2381His
XM_006724667.3:c.6981G>C	XP_006724730.1:p.Gln2327His
XM_017029601.2:c.7170G>C	XP_016885090.1:p.Gln2390His
XM_017029602.1:c.7140G>C	XP_016885091.1:p.Gln2380His
XM_017029603.1:c.7092G>C	XP_016885092.1:p.Gln2364His
XM_017029604.2:c.7059G>C	XP_016885093.1:p.Gln2353His
XM_017029605.1:c.7056G>C	XP_016885094.1:p.Gln2352His
XM_017029606.2:c.7029G>C	XP_016885095.1:p.Gln2343His
XM_017029607.2:c.7026G>C	XP_016885096.1:p.Gln2342His
XM_017029608.2:c.6978G>C	XP_016885097.1:p.Gln2326His
XM_017029609.1:c.6942G>C	XP_016885098.1:p.Gln2314His
XM_017029610.1:c.6939G>C	XP_016885099.1:p.Gln2313His
XM_017029611.1:c.6894G>C	XP_016885100.1:p.Gln2298His
XR_001755700.2:n.7559G>C
NM_138270.4:c.7146G>C	NP_612114.2:p.Gln2382His
NM_000489.6:c.7260G>C MANE Select	NP_000480.3:p.Gln2420His
NM_138270.5:c.7146G>C	NP_612114.2:p.Gln2382His