Canonical Allele Identifier: CA379724611
Gene: PTH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492547C>T , CM000673.2:g.13492547C>T GRCh38
NC_000011.9:g.13514094C>T , CM000673.1:g.13514094C>T GRCh37
NC_000011.8:g.13470670C>T NCBI36
NG_008962.1:g.8474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.206G>A MANE Select ENSP00000282091.1:p.Gly69Glu
ENST00000282091.5:c.206G>A ENSP00000282091.1:p.Gly69Glu
ENST00000529816.1:c.206G>A ENSP00000433208.1:p.Gly69Glu
NM_000315.2:c.206G>A NP_000306.1:p.Gly69Glu
NM_000315.3:c.206G>A NP_000306.1:p.Gly69Glu
NM_001316352.1:c.302G>A NP_001303281.1:p.Gly101Glu
NM_000315.4:c.206G>A MANE Select NP_000306.1:p.Gly69Glu
NM_001316352.2:c.302G>A NP_001303281.1:p.Gly101Glu