Canonical Allele Identifier: CA377940220
Community Standard Title: NM_000102.4(CYP17A1):c.441T>G (p.Cys147Trp)
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835010A>C , CM000672.2:g.102835010A>C GRCh38
NC_000010.10:g.104594767A>C , CM000672.1:g.104594767A>C GRCh37
NC_000010.9:g.104584757A>C NCBI36
NG_007955.1:g.7524T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.441T>G MANE Select NP_000093.1:p.Cys147Trp
ENST00000369887.4:c.441T>G MANE Select ENSP00000358903.3:p.Cys147Trp
NM_000102.3:c.441T>G NP_000093.1:p.Cys147Trp
ENST00000369887.3:c.441T>G ENSP00000358903.3:p.Cys147Trp
ENST00000489268.1:n.695T>G
ENST00000638190.1:c.441T>G ENSP00000492539.1:p.Cys147Trp
ENST00000638272.1:c.298-1802T>G ENSP00000491508.1:n.298-1802T>G
ENST00000638971.1:c.441T>G ENSP00000492313.1:p.Cys147Trp
ENST00000639393.1:c.441T>G ENSP00000492651.1:p.Cys147Trp
ENST00000640633.1:n.203T>G