Canonical Allele Identifier: CA379724556

Gene: PTH

Linked Data

• MyVariant Identifiers: chr11:g.13514065A>G (hg19) ; chr11:g.13492518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492518A>G , CM000673.2:g.13492518A>G	GRCh38
NC_000011.9:g.13514065A>G , CM000673.1:g.13514065A>G	GRCh37
NC_000011.8:g.13470641A>G	NCBI36
NG_008962.1:g.8503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.235T>C MANE Select	ENSP00000282091.1:p.Ser79Pro
ENST00000282091.5:c.235T>C	ENSP00000282091.1:p.Ser79Pro
ENST00000529816.1:c.235T>C	ENSP00000433208.1:p.Ser79Pro
NM_000315.2:c.235T>C	NP_000306.1:p.Ser79Pro
NM_000315.3:c.235T>C	NP_000306.1:p.Ser79Pro
NM_001316352.1:c.331T>C	NP_001303281.1:p.Ser111Pro
NM_000315.4:c.235T>C MANE Select	NP_000306.1:p.Ser79Pro
NM_001316352.2:c.331T>C	NP_001303281.1:p.Ser111Pro