Canonical Allele Identifier: CA413700987

Gene: ATRX

Linked Data

• dbSNP Id: rs2065527652
• MyVariant Identifiers: chrX:g.76829750C>G (hg19) ; chrX:g.77574285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574285C>G , CM000685.2:g.77574285C>G	GRCh38
NC_000023.10:g.76829750C>G , CM000685.1:g.76829750C>G	GRCh37
NC_000023.9:g.76716406C>G	NCBI36
NG_008838.2:g.216937G>C
NG_008838.3:g.216985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6291G>C MANE Select	ENSP00000362441.4:p.Lys2097Asn
ENST00000675732.1:c.1389G>C	ENSP00000502598.1:p.Lys463Asn
ENST00000373344.9:c.6291G>C	ENSP00000362441.4:p.Lys2097Asn
ENST00000395603.7:c.6177G>C	ENSP00000378967.3:p.Lys2059Asn
ENST00000480283.5:c.*5919G>C	ENSP00000480196.1:n.*5919G>C
ENST00000623316.1:c.775G>C
ENST00000623706.3:n.3361G>C
NM_000489.4:c.6291G>C	NP_000480.3:p.Lys2097Asn
NM_138270.3:c.6177G>C	NP_612114.2:p.Lys2059Asn
XM_005262153.3:c.6288G>C	XP_005262210.2:p.Lys2096Asn
XM_005262154.3:c.6204G>C	XP_005262211.2:p.Lys2068Asn
XM_005262155.3:c.6174G>C	XP_005262212.2:p.Lys2058Asn
XM_005262156.3:c.6126G>C	XP_005262213.2:p.Lys2042Asn
XM_005262157.3:c.6087G>C	XP_005262214.2:p.Lys2029Asn
XM_006724666.2:c.6174G>C	XP_006724729.1:p.Lys2058Asn
XM_006724667.2:c.6012G>C	XP_006724730.1:p.Lys2004Asn
XR_938400.1:n.6633G>C
NM_000489.5:c.6291G>C	NP_000480.3:p.Lys2097Asn
XM_005262153.5:c.6288G>C	XP_005262210.2:p.Lys2096Asn
XM_005262154.5:c.6204G>C	XP_005262211.2:p.Lys2068Asn
XM_005262155.4:c.6174G>C	XP_005262212.2:p.Lys2058Asn
XM_005262156.4:c.6126G>C	XP_005262213.2:p.Lys2042Asn
XM_005262157.5:c.6087G>C	XP_005262214.2:p.Lys2029Asn
XM_006724666.4:c.6174G>C	XP_006724729.1:p.Lys2058Asn
XM_006724667.3:c.6012G>C	XP_006724730.1:p.Lys2004Asn
XM_017029601.2:c.6201G>C	XP_016885090.1:p.Lys2067Asn
XM_017029602.1:c.6171G>C	XP_016885091.1:p.Lys2057Asn
XM_017029603.1:c.6123G>C	XP_016885092.1:p.Lys2041Asn
XM_017029604.2:c.6090G>C	XP_016885093.1:p.Lys2030Asn
XM_017029605.1:c.6087G>C	XP_016885094.1:p.Lys2029Asn
XM_017029606.2:c.6060G>C	XP_016885095.1:p.Lys2020Asn
XM_017029607.2:c.6057G>C	XP_016885096.1:p.Lys2019Asn
XM_017029608.2:c.6009G>C	XP_016885097.1:p.Lys2003Asn
XM_017029609.1:c.5973G>C	XP_016885098.1:p.Lys1991Asn
XM_017029610.1:c.5970G>C	XP_016885099.1:p.Lys1990Asn
XM_017029611.1:c.5925G>C	XP_016885100.1:p.Lys1975Asn
XR_001755700.2:n.6590G>C
NM_138270.4:c.6177G>C	NP_612114.2:p.Lys2059Asn
NM_000489.6:c.6291G>C MANE Select	NP_000480.3:p.Lys2097Asn
NM_138270.5:c.6177G>C	NP_612114.2:p.Lys2059Asn