Canonical Allele Identifier: CA379724495
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492490T>C , CM000673.2:g.13492490T>C GRCh38
NC_000011.9:g.13514037T>C , CM000673.1:g.13514037T>C GRCh37
NC_000011.8:g.13470613T>C NCBI36
NG_008962.1:g.8531A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.263A>G MANE Select ENSP00000282091.1:p.Asn88Ser
ENST00000282091.5:c.263A>G ENSP00000282091.1:p.Asn88Ser
ENST00000529816.1:c.263A>G ENSP00000433208.1:p.Asn88Ser
NM_000315.2:c.263A>G NP_000306.1:p.Asn88Ser
NM_000315.3:c.263A>G NP_000306.1:p.Asn88Ser
NM_001316352.1:c.359A>G NP_001303281.1:p.Asn120Ser
NM_000315.4:c.263A>G MANE Select NP_000306.1:p.Asn88Ser
NM_001316352.2:c.359A>G NP_001303281.1:p.Asn120Ser