Canonical Allele Identifier: CA413720557

Gene: ATRX

Linked Data

• dbSNP Id: rs2148636995
• gnomAD v4: X-77684428-C-G
• MyVariant Identifiers: chrX:g.76939920C>G (hg19) ; chrX:g.77684428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684428C>G , CM000685.2:g.77684428C>G	GRCh38
NC_000023.10:g.76939920C>G , CM000685.1:g.76939920C>G	GRCh37
NC_000023.9:g.76826576C>G	NCBI36
NG_008838.2:g.106794G>C
NG_008838.3:g.106842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.828G>C MANE Select	ENSP00000362441.4:p.Leu276Phe
ENST00000373344.9:c.828G>C	ENSP00000362441.4:p.Leu276Phe
ENST00000395603.7:c.714G>C	ENSP00000378967.3:p.Leu238Phe
ENST00000480283.5:c.*456G>C	ENSP00000480196.1:n.*456G>C
ENST00000623321.3:c.663G>C	ENSP00000485127.1:p.Leu221Phe
ENST00000624032.3:c.828G>C	ENSP00000485253.1:p.Leu276Phe
ENST00000624166.3:c.711G>C	ENSP00000485103.1:p.Leu237Phe
NM_000489.4:c.828G>C	NP_000480.3:p.Leu276Phe
NM_138270.3:c.714G>C	NP_612114.2:p.Leu238Phe
XM_005262153.3:c.825G>C	XP_005262210.2:p.Leu275Phe
XM_005262154.3:c.828G>C	XP_005262211.2:p.Leu276Phe
XM_005262155.3:c.711G>C	XP_005262212.2:p.Leu237Phe
XM_005262156.3:c.663G>C	XP_005262213.2:p.Leu221Phe
XM_005262157.3:c.711G>C	XP_005262214.2:p.Leu237Phe
XM_006724666.2:c.711G>C	XP_006724729.1:p.Leu237Phe
XM_006724667.2:c.549G>C	XP_006724730.1:p.Leu183Phe
XM_006724668.2:c.828G>C	XP_006724731.1:p.Leu276Phe
XR_938400.1:n.1096G>C
NM_000489.5:c.828G>C	NP_000480.3:p.Leu276Phe
XM_005262153.5:c.825G>C	XP_005262210.2:p.Leu275Phe
XM_005262154.5:c.828G>C	XP_005262211.2:p.Leu276Phe
XM_005262155.4:c.711G>C	XP_005262212.2:p.Leu237Phe
XM_005262156.4:c.663G>C	XP_005262213.2:p.Leu221Phe
XM_005262157.5:c.711G>C	XP_005262214.2:p.Leu237Phe
XM_006724666.4:c.711G>C	XP_006724729.1:p.Leu237Phe
XM_006724667.3:c.549G>C	XP_006724730.1:p.Leu183Phe
XM_006724668.3:c.828G>C	XP_006724731.1:p.Leu276Phe
XM_017029601.2:c.825G>C	XP_016885090.1:p.Leu275Phe
XM_017029602.1:c.708G>C	XP_016885091.1:p.Leu236Phe
XM_017029603.1:c.660G>C	XP_016885092.1:p.Leu220Phe
XM_017029604.2:c.714G>C	XP_016885093.1:p.Leu238Phe
XM_017029605.1:c.711G>C	XP_016885094.1:p.Leu237Phe
XM_017029606.2:c.597G>C	XP_016885095.1:p.Leu199Phe
XM_017029607.2:c.594G>C	XP_016885096.1:p.Leu198Phe
XM_017029608.2:c.546G>C	XP_016885097.1:p.Leu182Phe
XM_017029609.1:c.597G>C	XP_016885098.1:p.Leu199Phe
XM_017029610.1:c.594G>C	XP_016885099.1:p.Leu198Phe
XM_017029611.1:c.549G>C	XP_016885100.1:p.Leu183Phe
XR_001755700.2:n.1053G>C
NM_138270.4:c.714G>C	NP_612114.2:p.Leu238Phe
NM_000489.6:c.828G>C MANE Select	NP_000480.3:p.Leu276Phe
NM_138270.5:c.714G>C	NP_612114.2:p.Leu238Phe