Canonical Allele Identifier: CA379724506
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514041C>G (hg19) chr11:g.13492494C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492494C>G , CM000673.2:g.13492494C>G GRCh38
NC_000011.9:g.13514041C>G , CM000673.1:g.13514041C>G GRCh37
NC_000011.8:g.13470617C>G NCBI36
NG_008962.1:g.8527G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.259G>C MANE Select ENSP00000282091.1:p.Asp87His
ENST00000282091.5:c.259G>C ENSP00000282091.1:p.Asp87His
ENST00000529816.1:c.259G>C ENSP00000433208.1:p.Asp87His
NM_000315.2:c.259G>C NP_000306.1:p.Asp87His
NM_000315.3:c.259G>C NP_000306.1:p.Asp87His
NM_001316352.1:c.355G>C NP_001303281.1:p.Asp119His
NM_000315.4:c.259G>C MANE Select NP_000306.1:p.Asp87His
NM_001316352.2:c.355G>C NP_001303281.1:p.Asp119His
Search 100 bp 5'
Search 100 bp 3'