Canonical Allele Identifier: CA120795
Gene: AR HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.67711453C>A
GRCh37 chrX:g.66931295C>A
Revel Score:
ENST00000544984 0.580
ENST00000374690 (MANE Select) 0.580
ENST00000396044 0.580
ENST00000396043 0.580
gnomAD v2:
X:66931295 C / A
gnomAD v3:
X:67711453 C / A
gnomAD v4:
chrX-67711453-C-A
Joint Max Group AF 0.00258423 (NFE)
Genomes Max Group AF 0.00206379 (NFE)
Exomes Max Group AF 0.00259821 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67711453C>A , CM000685.2:g.67711453C>A GRCh38
NC_000023.10:g.66931295C>A , CM000685.1:g.66931295C>A GRCh37
NC_000023.9:g.66848020C>A NCBI36
NG_009014.2:g.172422C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.*285C>A ENSP00000379358.4:n.*285C>A
ENST00000374690.9:c.1937C>A MANE Select ENSP00000363822.3:p.Ala646Asp
ENST00000396043.3:c.564C>A ENSP00000379358.3:n.564C>A
ENST00000396044.8:c.1937C>A ENSP00000379359.3:p.Ala646Asp
ENST00000612452.5:c.1937C>A ENSP00000484033.2:p.Ala646Asp
ENST00000374690.7:c.1937C>A ENSP00000363822.3:p.Ala646Asp
ENST00000396043.2:c.341C>A ENSP00000379358.2:p.Ala114Asp
ENST00000396044.7:c.1937C>A ENSP00000379359.3:p.Ala646Asp
ENST00000612452.4:c.1367C>A ENSP00000484033.1:p.Ala456Asp
NM_000044.3:c.1937C>A NP_000035.2:p.Ala646Asp
NM_001011645.2:c.341C>A NP_001011645.1:p.Ala114Asp
NM_000044.4:c.1937C>A NP_000035.2:p.Ala646Asp
NM_001011645.3:c.341C>A NP_001011645.1:p.Ala114Asp
NM_000044.6:c.1937C>A MANE Select NP_000035.2:p.Ala646Asp
Search 100 bp 5'
Search 100 bp 3'