Canonical Allele Identifier: CA379724383
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492439T>G , CM000673.2:g.13492439T>G GRCh38
NC_000011.9:g.13513986T>G , CM000673.1:g.13513986T>G GRCh37
NC_000011.8:g.13470562T>G NCBI36
NG_008962.1:g.8582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.314A>C MANE Select ENSP00000282091.1:p.Asp105Ala
ENST00000282091.5:c.314A>C ENSP00000282091.1:p.Asp105Ala
ENST00000529816.1:c.314A>C ENSP00000433208.1:p.Asp105Ala
NM_000315.2:c.314A>C NP_000306.1:p.Asp105Ala
NM_000315.3:c.314A>C NP_000306.1:p.Asp105Ala
NM_001316352.1:c.410A>C NP_001303281.1:p.Asp137Ala
NM_000315.4:c.314A>C MANE Select NP_000306.1:p.Asp105Ala
NM_001316352.2:c.410A>C NP_001303281.1:p.Asp137Ala