Canonical Allele Identifier: CA10630452

Gene: PTH

Linked Data

• ClinVar Variation Id: 303700
• ClinVar RCV Id: RCV000263588 ; RCV001653491
• dbSNP Id: rs16912873
• gnomAD v2: 11-13513633-T-C
• gnomAD v3: 11-13492086-T-C
• gnomAD v4: 11-13492086-T-C
• MyVariant Identifiers: chr11:g.13513633T>C (hg19) ; chr11:g.13492086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492086T>C , CM000673.2:g.13492086T>C	GRCh38
NC_000011.9:g.13513633T>C , CM000673.1:g.13513633T>C	GRCh37
NC_000011.8:g.13470209T>C	NCBI36
NG_008962.1:g.8935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.*319A>G MANE Select	ENSP00000282091.1:n.*319A>G
ENST00000282091.5:c.*319A>G	ENSP00000282091.1:n.*319A>G
NM_000315.2:c.*319A>G	NP_000306.1:n.*319A>G
NM_000315.3:c.*319A>G	NP_000306.1:n.*319A>G
NM_001316352.1:c.*319A>G	NP_001303281.1:n.*319A>G
NM_000315.4:c.*319A>G MANE Select	NP_000306.1:n.*319A>G
NM_001316352.2:c.*319A>G	NP_001303281.1:n.*319A>G