Canonical Allele Identifier: CA473263472
Gene: PTH HGNC NCBI

Linked Data

dbSNP Id: rs1847486959
MyVariant Identifiers: chr11:g.13514036A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492489A>G , CM000673.2:g.13492489A>G GRCh38
NC_000011.9:g.13514036A>G , CM000673.1:g.13514036A>G GRCh37
NC_000011.8:g.13470612A>G NCBI36
NG_008962.1:g.8532T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.264T>C MANE Select ENSP00000282091.1:p.Asn88=
ENST00000282091.5:c.264T>C ENSP00000282091.1:p.Asn88=
ENST00000529816.1:c.264T>C ENSP00000433208.1:p.Asn88=
NM_000315.2:c.264T>C NP_000306.1:p.Asn88=
NM_000315.3:c.264T>C NP_000306.1:p.Asn88=
NM_001316352.1:c.360T>C NP_001303281.1:p.Asn120=
NM_000315.4:c.264T>C MANE Select NP_000306.1:p.Asn88=
NM_001316352.2:c.360T>C NP_001303281.1:p.Asn120=