Canonical Allele Identifier: CA413707675

Gene: ATRX

Linked Data

• dbSNP Id: rs1603083910
• MyVariant Identifiers: chrX:g.76907610C>G (hg19) ; chrX:g.77652120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652120C>G , CM000685.2:g.77652120C>G	GRCh38
NC_000023.10:g.76907610C>G , CM000685.1:g.76907610C>G	GRCh37
NC_000023.9:g.76794266C>G	NCBI36
NG_008838.2:g.139102G>C
NG_008838.3:g.139150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4551G>C MANE Select	ENSP00000362441.4:p.Leu1517Phe
ENST00000373344.9:c.4551G>C	ENSP00000362441.4:p.Leu1517Phe
ENST00000395603.7:c.4437G>C	ENSP00000378967.3:p.Leu1479Phe
ENST00000460639.2:n.31G>C
ENST00000480283.5:c.*4179G>C	ENSP00000480196.1:n.*4179G>C
ENST00000623242.3:c.157G>C
NM_000489.4:c.4551G>C	NP_000480.3:p.Leu1517Phe
NM_138270.3:c.4437G>C	NP_612114.2:p.Leu1479Phe
XM_005262153.3:c.4548G>C	XP_005262210.2:p.Leu1516Phe
XM_005262154.3:c.4464G>C	XP_005262211.2:p.Leu1488Phe
XM_005262155.3:c.4434G>C	XP_005262212.2:p.Leu1478Phe
XM_005262156.3:c.4386G>C	XP_005262213.2:p.Leu1462Phe
XM_005262157.3:c.4347G>C	XP_005262214.2:p.Leu1449Phe
XM_006724666.2:c.4434G>C	XP_006724729.1:p.Leu1478Phe
XM_006724667.2:c.4272G>C	XP_006724730.1:p.Leu1424Phe
XM_006724668.2:c.4551G>C	XP_006724731.1:p.Leu1517Phe
XR_938400.1:n.4819G>C
NM_000489.5:c.4551G>C	NP_000480.3:p.Leu1517Phe
XM_005262153.5:c.4548G>C	XP_005262210.2:p.Leu1516Phe
XM_005262154.5:c.4464G>C	XP_005262211.2:p.Leu1488Phe
XM_005262155.4:c.4434G>C	XP_005262212.2:p.Leu1478Phe
XM_005262156.4:c.4386G>C	XP_005262213.2:p.Leu1462Phe
XM_005262157.5:c.4347G>C	XP_005262214.2:p.Leu1449Phe
XM_006724666.4:c.4434G>C	XP_006724729.1:p.Leu1478Phe
XM_006724667.3:c.4272G>C	XP_006724730.1:p.Leu1424Phe
XM_006724668.3:c.4551G>C	XP_006724731.1:p.Leu1517Phe
XM_017029601.2:c.4461G>C	XP_016885090.1:p.Leu1487Phe
XM_017029602.1:c.4431G>C	XP_016885091.1:p.Leu1477Phe
XM_017029603.1:c.4383G>C	XP_016885092.1:p.Leu1461Phe
XM_017029604.2:c.4350G>C	XP_016885093.1:p.Leu1450Phe
XM_017029605.1:c.4347G>C	XP_016885094.1:p.Leu1449Phe
XM_017029606.2:c.4320G>C	XP_016885095.1:p.Leu1440Phe
XM_017029607.2:c.4317G>C	XP_016885096.1:p.Leu1439Phe
XM_017029608.2:c.4269G>C	XP_016885097.1:p.Leu1423Phe
XM_017029609.1:c.4233G>C	XP_016885098.1:p.Leu1411Phe
XM_017029610.1:c.4230G>C	XP_016885099.1:p.Leu1410Phe
XM_017029611.1:c.4185G>C	XP_016885100.1:p.Leu1395Phe
XR_001755700.2:n.4776G>C
NM_138270.4:c.4437G>C	NP_612114.2:p.Leu1479Phe
NM_000489.6:c.4551G>C MANE Select	NP_000480.3:p.Leu1517Phe
NM_138270.5:c.4437G>C	NP_612114.2:p.Leu1479Phe