Canonical Allele Identifier: CA413700692

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77618849T>G , CM000685.2:g.77618849T>G	GRCh38
NC_000023.10:g.76874317T>G , CM000685.1:g.76874317T>G	GRCh37
NC_000023.9:g.76760973T>G	NCBI36
NG_008838.2:g.172373A>C
NG_008838.3:g.172421A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5405A>C MANE Select	NP_000480.3:p.Lys1802Thr
ENST00000373344.11:c.5405A>C MANE Select	ENSP00000362441.4:p.Lys1802Thr
NM_000489.4:c.5405A>C	NP_000480.3:p.Lys1802Thr
NM_000489.5:c.5405A>C	NP_000480.3:p.Lys1802Thr
NM_138270.3:c.5291A>C	NP_612114.2:p.Lys1764Thr
NM_138270.4:c.5291A>C	NP_612114.2:p.Lys1764Thr
NM_138270.5:c.5291A>C	NP_612114.2:p.Lys1764Thr
ENST00000373344.9:c.5405A>C	ENSP00000362441.4:p.Lys1802Thr
ENST00000395603.7:c.5291A>C	ENSP00000378967.3:p.Lys1764Thr
ENST00000400866.4:c.386A>C	ENSP00000383663.3:p.Lys129Thr
ENST00000480283.5:c.*5033A>C	ENSP00000480196.1:n.*5033A>C
ENST00000675732.1:c.503A>C	ENSP00000502598.1:p.Lys168Thr
ENST00000675908.1:n.1140A>C
XM_005262153.3:c.5402A>C	XP_005262210.2:p.Lys1801Thr
XM_005262153.5:c.5402A>C	XP_005262210.2:p.Lys1801Thr
XM_005262154.3:c.5318A>C	XP_005262211.2:p.Lys1773Thr
XM_005262154.5:c.5318A>C	XP_005262211.2:p.Lys1773Thr
XM_005262155.3:c.5288A>C	XP_005262212.2:p.Lys1763Thr
XM_005262155.4:c.5288A>C	XP_005262212.2:p.Lys1763Thr
XM_005262156.3:c.5240A>C	XP_005262213.2:p.Lys1747Thr
XM_005262156.4:c.5240A>C	XP_005262213.2:p.Lys1747Thr
XM_005262157.3:c.5201A>C	XP_005262214.2:p.Lys1734Thr
XM_005262157.5:c.5201A>C	XP_005262214.2:p.Lys1734Thr
XM_006724666.2:c.5288A>C	XP_006724729.1:p.Lys1763Thr
XM_006724666.4:c.5288A>C	XP_006724729.1:p.Lys1763Thr
XM_006724667.2:c.5126A>C	XP_006724730.1:p.Lys1709Thr
XM_006724667.3:c.5126A>C	XP_006724730.1:p.Lys1709Thr
XM_006724668.2:c.5405A>C	XP_006724731.1:p.Lys1802Thr
XM_006724668.3:c.5405A>C	XP_006724731.1:p.Lys1802Thr
XM_017029601.2:c.5315A>C	XP_016885090.1:p.Lys1772Thr
XM_017029602.1:c.5285A>C	XP_016885091.1:p.Lys1762Thr
XM_017029603.1:c.5237A>C	XP_016885092.1:p.Lys1746Thr
XM_017029604.2:c.5204A>C	XP_016885093.1:p.Lys1735Thr
XM_017029605.1:c.5201A>C	XP_016885094.1:p.Lys1734Thr
XM_017029606.2:c.5174A>C	XP_016885095.1:p.Lys1725Thr
XM_017029607.2:c.5171A>C	XP_016885096.1:p.Lys1724Thr
XM_017029608.2:c.5123A>C	XP_016885097.1:p.Lys1708Thr
XM_017029609.1:c.5087A>C	XP_016885098.1:p.Lys1696Thr
XM_017029610.1:c.5084A>C	XP_016885099.1:p.Lys1695Thr
XM_017029611.1:c.5039A>C	XP_016885100.1:p.Lys1680Thr
XR_001755700.2:n.5630A>C
XR_938400.1:n.5673A>C