Canonical Allele Identifier: CA5893171

Gene: PTH

Linked Data

• dbSNP Id: rs750463292
• ExAC: 11:13514068 C / T
• gnomAD v2: 11-13514068-C-T
• MyVariant Identifiers: chr11:g.13514068C>T (hg19) ; chr11:g.13492521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492521C>T , CM000673.2:g.13492521C>T	GRCh38
NC_000011.9:g.13514068C>T , CM000673.1:g.13514068C>T	GRCh37
NC_000011.8:g.13470644C>T	NCBI36
NG_008962.1:g.8500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.232G>A MANE Select	ENSP00000282091.1:p.Gly78Ser
ENST00000282091.5:c.232G>A	ENSP00000282091.1:p.Gly78Ser
ENST00000529816.1:c.232G>A	ENSP00000433208.1:p.Gly78Ser
NM_000315.2:c.232G>A	NP_000306.1:p.Gly78Ser
NM_000315.3:c.232G>A	NP_000306.1:p.Gly78Ser
NM_001316352.1:c.328G>A	NP_001303281.1:p.Gly110Ser
NM_000315.4:c.232G>A MANE Select	NP_000306.1:p.Gly78Ser
NM_001316352.2:c.328G>A	NP_001303281.1:p.Gly110Ser