Canonical Allele Identifier: CA379724685
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492580T>C , CM000673.2:g.13492580T>C GRCh38
NC_000011.9:g.13514127T>C , CM000673.1:g.13514127T>C GRCh37
NC_000011.8:g.13470703T>C NCBI36
NG_008962.1:g.8441A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.173A>G MANE Select ENSP00000282091.1:p.Lys58Arg
ENST00000282091.5:c.173A>G ENSP00000282091.1:p.Lys58Arg
ENST00000529816.1:c.173A>G ENSP00000433208.1:p.Lys58Arg
NM_000315.2:c.173A>G NP_000306.1:p.Lys58Arg
NM_000315.3:c.173A>G NP_000306.1:p.Lys58Arg
NM_001316352.1:c.269A>G NP_001303281.1:p.Lys90Arg
NM_000315.4:c.173A>G MANE Select NP_000306.1:p.Lys58Arg
NM_001316352.2:c.269A>G NP_001303281.1:p.Lys90Arg