Canonical Allele Identifier: CA379724488

Gene: PTH

Linked Data

• dbSNP Id: rs1461372628
• gnomAD v3: 11-13492487-A-G
• gnomAD v4: 11-13492487-A-G
• MyVariant Identifiers: chr11:g.13514034A>G (hg19) ; chr11:g.13492487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492487A>G , CM000673.2:g.13492487A>G	GRCh38
NC_000011.9:g.13514034A>G , CM000673.1:g.13514034A>G	GRCh37
NC_000011.8:g.13470610A>G	NCBI36
NG_008962.1:g.8534T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282091.6:c.266T>C MANE Select	ENSP00000282091.1:p.Val89Ala
ENST00000282091.5:c.266T>C	ENSP00000282091.1:p.Val89Ala
ENST00000529816.1:c.266T>C	ENSP00000433208.1:p.Val89Ala
NM_000315.2:c.266T>C	NP_000306.1:p.Val89Ala
NM_000315.3:c.266T>C	NP_000306.1:p.Val89Ala
NM_001316352.1:c.362T>C	NP_001303281.1:p.Val121Ala
NM_000315.4:c.266T>C MANE Select	NP_000306.1:p.Val89Ala
NM_001316352.2:c.362T>C	NP_001303281.1:p.Val121Ala