Canonical Allele Identifier: CA379724515
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492497C>G , CM000673.2:g.13492497C>G GRCh38
NC_000011.9:g.13514044C>G , CM000673.1:g.13514044C>G GRCh37
NC_000011.8:g.13470620C>G NCBI36
NG_008962.1:g.8524G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.256G>C MANE Select ENSP00000282091.1:p.Glu86Gln
ENST00000282091.5:c.256G>C ENSP00000282091.1:p.Glu86Gln
ENST00000529816.1:c.256G>C ENSP00000433208.1:p.Glu86Gln
NM_000315.2:c.256G>C NP_000306.1:p.Glu86Gln
NM_000315.3:c.256G>C NP_000306.1:p.Glu86Gln
NM_001316352.1:c.352G>C NP_001303281.1:p.Glu118Gln
NM_000315.4:c.256G>C MANE Select NP_000306.1:p.Glu86Gln
NM_001316352.2:c.352G>C NP_001303281.1:p.Glu118Gln