Canonical Allele Identifier: CA517048624
Gene: AR HGNC NCBI

Linked Data

ClinVar Variation Id: 2939302
ClinVar RCV Id: RCV003792028
dbSNP Id: rs2147525235
gnomAD v4: X-67711658-A-G
MyVariant Identifiers: chrX:g.66931500A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67711658A>G , CM000685.2:g.67711658A>G GRCh38
NC_000023.10:g.66931500A>G , CM000685.1:g.66931500A>G GRCh37
NC_000023.9:g.66848225A>G NCBI36
NG_009014.2:g.172627A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.*490A>G ENSP00000379358.4:n.*490A>G
ENST00000374690.9:c.2142A>G MANE Select ENSP00000363822.3:p.Val714=
ENST00000396043.3:c.769A>G ENSP00000379358.3:n.769A>G
ENST00000396044.8:c.2142A>G ENSP00000379359.3:p.Val714=
ENST00000612452.5:c.2142A>G ENSP00000484033.2:p.Val714=
ENST00000374690.7:c.2142A>G ENSP00000363822.3:p.Val714=
ENST00000396043.2:c.546A>G ENSP00000379358.2:p.Val182=
ENST00000396044.7:c.2142A>G ENSP00000379359.3:p.Val714=
ENST00000612452.4:c.1572A>G ENSP00000484033.1:p.Val524=
NM_000044.3:c.2142A>G NP_000035.2:p.Val714=
NM_001011645.2:c.546A>G NP_001011645.1:p.Val182=
NM_000044.4:c.2142A>G NP_000035.2:p.Val714=
NM_001011645.3:c.546A>G NP_001011645.1:p.Val182=
NM_000044.6:c.2142A>G MANE Select NP_000035.2:p.Val714=