Canonical Allele Identifier: CA5669338
Community Standard Title: NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His)
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830883C>T , CM000672.2:g.102830883C>T GRCh38
NC_000010.10:g.104590640C>T , CM000672.1:g.104590640C>T GRCh37
NC_000010.9:g.104580630C>T NCBI36
NG_007955.1:g.11651G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.1346G>A (CYP17A1) MANE Select NP_000093.1:p.Arg449His
ENST00000369887.4:c.1346G>A (CYP17A1) MANE Select ENSP00000358903.3:p.Arg449His
NM_000102.3:c.1346G>A (CYP17A1) NP_000093.1:p.Arg449His
ENST00000369887.3:c.1346G>A (CYP17A1) ENSP00000358903.3:p.Arg449His
ENST00000638190.1:c.1043G>A (CYP17A1) ENSP00000492539.1:p.Arg348His
ENST00000638272.1:c.890G>A (CYP17A1) ENSP00000491508.1:p.Arg297His
ENST00000638971.1:c.1259G>A (CYP17A1) ENSP00000492313.1:p.Arg420His
ENST00000639393.1:c.1349G>A (CYP17A1) ENSP00000492651.1:p.Arg450His
ENST00000640633.1:n.1108G>A (CYP17A1)
ENST00000647664.1:c.*565C>T (WBP1L) ENSP00000498131.1:n.*565C>T