Canonical Allele Identifier: CA123438

Gene: PTH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492506G>A , CM000673.2:g.13492506G>A	GRCh38
NC_000011.9:g.13514053G>A , CM000673.1:g.13514053G>A	GRCh37
NC_000011.8:g.13470629G>A	NCBI36
NG_008962.1:g.8515C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000315.4:c.247C>T MANE Select	NP_000306.1:p.Arg83Ter
ENST00000282091.6:c.247C>T MANE Select	ENSP00000282091.1:p.Arg83Ter
NM_000315.2:c.247C>T	NP_000306.1:p.Arg83Ter
NM_000315.3:c.247C>T	NP_000306.1:p.Arg83Ter
NM_001316352.1:c.343C>T	NP_001303281.1:p.Arg115Ter
NM_001316352.2:c.343C>T	NP_001303281.1:p.Arg115Ter
ENST00000282091.5:c.247C>T	ENSP00000282091.1:p.Arg83Ter
ENST00000529816.1:c.247C>T	ENSP00000433208.1:p.Arg83Ter