Canonical Allele Identifier: CA473263544
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514144T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492597T>C , CM000673.2:g.13492597T>C GRCh38
NC_000011.9:g.13514144T>C , CM000673.1:g.13514144T>C GRCh37
NC_000011.8:g.13470720T>C NCBI36
NG_008962.1:g.8424A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.156A>G MANE Select ENSP00000282091.1:p.Val52=
ENST00000282091.5:c.156A>G ENSP00000282091.1:p.Val52=
ENST00000529816.1:c.156A>G ENSP00000433208.1:p.Val52=
NM_000315.2:c.156A>G NP_000306.1:p.Val52=
NM_000315.3:c.156A>G NP_000306.1:p.Val52=
NM_001316352.1:c.252A>G NP_001303281.1:p.Val84=
NM_000315.4:c.156A>G MANE Select NP_000306.1:p.Val52=
NM_001316352.2:c.252A>G NP_001303281.1:p.Val84=