Canonical Allele Identifier: CA379724704
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514137G>C (hg19) chr11:g.13492590G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492590G>C , CM000673.2:g.13492590G>C GRCh38
NC_000011.9:g.13514137G>C , CM000673.1:g.13514137G>C GRCh37
NC_000011.8:g.13470713G>C NCBI36
NG_008962.1:g.8431C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.163C>G MANE Select ENSP00000282091.1:p.Leu55Val
ENST00000282091.5:c.163C>G ENSP00000282091.1:p.Leu55Val
ENST00000529816.1:c.163C>G ENSP00000433208.1:p.Leu55Val
NM_000315.2:c.163C>G NP_000306.1:p.Leu55Val
NM_000315.3:c.163C>G NP_000306.1:p.Leu55Val
NM_001316352.1:c.259C>G NP_001303281.1:p.Leu87Val
NM_000315.4:c.163C>G MANE Select NP_000306.1:p.Leu55Val
NM_001316352.2:c.259C>G NP_001303281.1:p.Leu87Val
Search 100 bp 5'
Search 100 bp 3'