Canonical Allele Identifier: CA516970411
Gene: AR HGNC NCBI

Linked Data

ClinVar Variation Id: 2954165
ClinVar RCV Id: RCV003813388
dbSNP Id: rs2147531084
gnomAD v4: X-67717593-C-T
MyVariant Identifiers: chrX:g.66937435C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67717593C>T , CM000685.2:g.67717593C>T GRCh38
NC_000023.10:g.66937435C>T , CM000685.1:g.66937435C>T GRCh37
NC_000023.9:g.66854160C>T NCBI36
NG_009014.2:g.178562C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.*637C>T ENSP00000379358.4:n.*637C>T
ENST00000374690.9:c.2289C>T MANE Select ENSP00000363822.3:p.Leu763=
ENST00000396043.3:c.916C>T ENSP00000379358.3:n.916C>T
ENST00000396044.8:c.2173+5904C>T ENSP00000379359.3:n.2173+5904C>T
ENST00000612452.5:c.2289C>T ENSP00000484033.2:p.Leu763=
ENST00000374690.7:c.2289C>T ENSP00000363822.3:p.Leu763=
ENST00000396043.2:c.693C>T ENSP00000379358.2:p.Leu231=
ENST00000396044.7:c.2173+5904C>T ENSP00000379359.3:n.2173+5904C>T
ENST00000612452.4:c.1719C>T ENSP00000484033.1:p.Leu573=
NM_000044.3:c.2289C>T NP_000035.2:p.Leu763=
NM_001011645.2:c.693C>T NP_001011645.1:p.Leu231=
NM_000044.4:c.2289C>T NP_000035.2:p.Leu763=
NM_001011645.3:c.693C>T NP_001011645.1:p.Leu231=
NM_000044.6:c.2289C>T MANE Select NP_000035.2:p.Leu763=