Canonical Allele Identifier: CA377940213
Community Standard Title: NM_000102.4(CYP17A1):c.444G>C (p.Gln148His)
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835007C>G , CM000672.2:g.102835007C>G GRCh38
NC_000010.10:g.104594764C>G , CM000672.1:g.104594764C>G GRCh37
NC_000010.9:g.104584754C>G NCBI36
NG_007955.1:g.7527G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.444G>C MANE Select NP_000093.1:p.Gln148His
ENST00000369887.4:c.444G>C MANE Select ENSP00000358903.3:p.Gln148His
NM_000102.3:c.444G>C NP_000093.1:p.Gln148His
ENST00000369887.3:c.444G>C ENSP00000358903.3:p.Gln148His
ENST00000489268.1:n.698G>C
ENST00000638190.1:c.444G>C ENSP00000492539.1:p.Gln148His
ENST00000638272.1:c.298-1799G>C ENSP00000491508.1:n.298-1799G>C
ENST00000638971.1:c.444G>C ENSP00000492313.1:p.Gln148His
ENST00000639393.1:c.444G>C ENSP00000492651.1:p.Gln148His
ENST00000640633.1:n.206G>C