Canonical Allele Identifier: CA377940222
Community Standard Title: NM_000102.4(CYP17A1):c.440G>T (p.Cys147Phe)
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835011C>A , CM000672.2:g.102835011C>A GRCh38
NC_000010.10:g.104594768C>A , CM000672.1:g.104594768C>A GRCh37
NC_000010.9:g.104584758C>A NCBI36
NG_007955.1:g.7523G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.440G>T MANE Select NP_000093.1:p.Cys147Phe
ENST00000369887.4:c.440G>T MANE Select ENSP00000358903.3:p.Cys147Phe
NM_000102.3:c.440G>T NP_000093.1:p.Cys147Phe
ENST00000369887.3:c.440G>T ENSP00000358903.3:p.Cys147Phe
ENST00000489268.1:n.694G>T
ENST00000638190.1:c.440G>T ENSP00000492539.1:p.Cys147Phe
ENST00000638272.1:c.298-1803G>T ENSP00000491508.1:n.298-1803G>T
ENST00000638971.1:c.440G>T ENSP00000492313.1:p.Cys147Phe
ENST00000639393.1:c.440G>T ENSP00000492651.1:p.Cys147Phe
ENST00000640633.1:n.202G>T