Canonical Allele Identifier: CA120709
Gene: AR HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.67717495G>A
GRCh37 chrX:g.66937337G>A
Revel Score:
ENST00000544984 0.761
ENST00000374690 (MANE Select) 0.761
ENST00000396043 0.761
gnomAD v2:
X:66937337 G / A
gnomAD v3:
X:67717495 G / A
gnomAD v4:
chrX-67717495-G-A
Joint Max Group AF 0.00016017 (EAS)
Genomes Max Group AF 0.00023014 (EAS)
Exomes Max Group AF 0.00010794 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67717495G>A , CM000685.2:g.67717495G>A GRCh38
NC_000023.10:g.66937337G>A , CM000685.1:g.66937337G>A GRCh37
NC_000023.9:g.66854062G>A NCBI36
NG_009014.2:g.178464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.*539G>A ENSP00000379358.4:n.*539G>A
ENST00000374690.9:c.2191G>A MANE Select ENSP00000363822.3:p.Val731Met
ENST00000396043.3:c.818G>A ENSP00000379358.3:n.818G>A
ENST00000396044.8:c.2173+5806G>A ENSP00000379359.3:n.2173+5806G>A
ENST00000612452.5:c.2191G>A ENSP00000484033.2:p.Val731Met
ENST00000374690.7:c.2191G>A ENSP00000363822.3:p.Val731Met
ENST00000396043.2:c.595G>A ENSP00000379358.2:p.Val199Met
ENST00000396044.7:c.2173+5806G>A ENSP00000379359.3:n.2173+5806G>A
ENST00000612452.4:c.1621G>A ENSP00000484033.1:p.Val541Met
NM_000044.3:c.2191G>A NP_000035.2:p.Val731Met
NM_001011645.2:c.595G>A NP_001011645.1:p.Val199Met
NM_000044.4:c.2191G>A NP_000035.2:p.Val731Met
NM_001011645.3:c.595G>A NP_001011645.1:p.Val199Met
NM_000044.6:c.2191G>A MANE Select NP_000035.2:p.Val731Met
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