Canonical Allele Identifier: CA120780
Gene: AR HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.67717484G>T
GRCh37 chrX:g.66937326G>T
Revel Score:
ENST00000544984 0.951
ENST00000374690 (MANE Select) 0.951
ENST00000396043 0.951
gnomAD v2:
X:66937326 G / T
gnomAD v3:
X:67717484 G / T
gnomAD v4:
chrX-67717484-G-T
Joint Max Group AF 0.00008861 (NFE)
Genomes Max Group AF 0.00008727 (NFE)
Exomes Max Group AF 0.00008463 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67717484G>T , CM000685.2:g.67717484G>T GRCh38
NC_000023.10:g.66937326G>T , CM000685.1:g.66937326G>T GRCh37
NC_000023.9:g.66854051G>T NCBI36
NG_009014.2:g.178453G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.*528G>T ENSP00000379358.4:n.*528G>T
ENST00000374690.9:c.2180G>T MANE Select ENSP00000363822.3:p.Arg727Leu
ENST00000396043.3:c.807G>T ENSP00000379358.3:n.807G>T
ENST00000396044.8:c.2173+5795G>T ENSP00000379359.3:n.2173+5795G>T
ENST00000612452.5:c.2180G>T ENSP00000484033.2:p.Arg727Leu
ENST00000374690.7:c.2180G>T ENSP00000363822.3:p.Arg727Leu
ENST00000396043.2:c.584G>T ENSP00000379358.2:p.Arg195Leu
ENST00000396044.7:c.2173+5795G>T ENSP00000379359.3:n.2173+5795G>T
ENST00000612452.4:c.1610G>T ENSP00000484033.1:p.Arg537Leu
NM_000044.3:c.2180G>T NP_000035.2:p.Arg727Leu
NM_001011645.2:c.584G>T NP_001011645.1:p.Arg195Leu
NM_000044.4:c.2180G>T NP_000035.2:p.Arg727Leu
NM_001011645.3:c.584G>T NP_001011645.1:p.Arg195Leu
NM_000044.6:c.2180G>T MANE Select NP_000035.2:p.Arg727Leu
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