Canonical Allele Identifier: CA362378916
Gene: PROP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993042C>A , CM000667.2:g.177993042C>A GRCh38
NC_000005.9:g.177420043C>A , CM000667.1:g.177420043C>A GRCh37
NC_000005.8:g.177352649C>A NCBI36
NG_015889.1:g.8201G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.348G>T MANE Select ENSP00000311290.2:p.Trp116Cys
NM_006261.4:c.348G>T NP_006252.3:p.Trp116Cys
NM_006261.5:c.348G>T MANE Select NP_006252.4:p.Trp116Cys