Canonical Allele Identifier: CA379724712
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492593A>T , CM000673.2:g.13492593A>T GRCh38
NC_000011.9:g.13514140A>T , CM000673.1:g.13514140A>T GRCh37
NC_000011.8:g.13470716A>T NCBI36
NG_008962.1:g.8428T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.160T>A MANE Select ENSP00000282091.1:p.Trp54Arg
ENST00000282091.5:c.160T>A ENSP00000282091.1:p.Trp54Arg
ENST00000529816.1:c.160T>A ENSP00000433208.1:p.Trp54Arg
NM_000315.2:c.160T>A NP_000306.1:p.Trp54Arg
NM_000315.3:c.160T>A NP_000306.1:p.Trp54Arg
NM_001316352.1:c.256T>A NP_001303281.1:p.Trp86Arg
NM_000315.4:c.160T>A MANE Select NP_000306.1:p.Trp54Arg
NM_001316352.2:c.256T>A NP_001303281.1:p.Trp86Arg