Canonical Allele Identifier: CA413429315

Gene: AR

Linked Data

• ClinVar Variation Id: 3061773
• ClinVar RCV Id: RCV003983766
• dbSNP Id: rs1218564193
• gnomAD v2: X-66905935-C-T
• gnomAD v4: X-67686093-C-T
• COSMIC: COSM5003462 ; COSM5003463 ; COSM6018554
• MyVariant Identifiers: chrX:g.66905935C>T (hg19) ; chrX:g.67686093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.67686093C>T , CM000685.2:g.67686093C>T	GRCh38
NC_000023.10:g.66905935C>T , CM000685.1:g.66905935C>T	GRCh37
NC_000023.9:g.66822660C>T	NCBI36
NG_009014.2:g.147062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396043.4:c.*200C>T	ENSP00000379358.4:n.*200C>T
ENST00000374690.9:c.1852C>T MANE Select	ENSP00000363822.3:p.Arg618Trp
ENST00000396043.3:c.479C>T	ENSP00000379358.3:n.479C>T
ENST00000396044.8:c.1852C>T	ENSP00000379359.3:p.Arg618Trp
ENST00000612452.5:c.1852C>T	ENSP00000484033.2:p.Arg618Trp
ENST00000374690.7:c.1852C>T	ENSP00000363822.3:p.Arg618Trp
ENST00000396043.2:c.256C>T	ENSP00000379358.2:p.Arg86Trp
ENST00000396044.7:c.1852C>T	ENSP00000379359.3:p.Arg618Trp
ENST00000504326.5:c.1852C>T	ENSP00000421155.1:p.Arg618Trp
ENST00000513847.5:n.2179C>T
ENST00000514029.5:c.*333C>T	ENSP00000425199.1:n.*333C>T
ENST00000612010.4:c.*204C>T	ENSP00000482407.1:n.*204C>T
ENST00000612452.4:c.1282C>T	ENSP00000484033.1:p.Arg428Trp
ENST00000613054.2:c.*50C>T	ENSP00000479013.1:n.*50C>T
NM_000044.3:c.1852C>T	NP_000035.2:p.Arg618Trp
NM_001011645.2:c.256C>T	NP_001011645.1:p.Arg86Trp
NM_000044.4:c.1852C>T	NP_000035.2:p.Arg618Trp
NM_001011645.3:c.256C>T	NP_001011645.1:p.Arg86Trp
NM_001348061.1:c.1852C>T	NP_001334990.1:p.Arg618Trp
NM_001348063.1:c.1852C>T	NP_001334992.1:p.Arg618Trp
NM_001348064.1:c.*50C>T	NP_001334993.1:n.*50C>T
NM_000044.6:c.1852C>T MANE Select	NP_000035.2:p.Arg618Trp