Canonical Allele Identifier: CA5893166
Gene: PTH HGNC NCBI

Linked Data

dbSNP Id: rs760357380
ExAC: 11:13514035 C / T
gnomAD v2: 11-13514035-C-T
gnomAD v4: 11-13492488-C-T
MyVariant Identifiers: chr11:g.13514035C>T (hg19) chr11:g.13492488C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492488C>T , CM000673.2:g.13492488C>T GRCh38
NC_000011.9:g.13514035C>T , CM000673.1:g.13514035C>T GRCh37
NC_000011.8:g.13470611C>T NCBI36
NG_008962.1:g.8533G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.265G>A MANE Select ENSP00000282091.1:p.Val89Ile
ENST00000282091.5:c.265G>A ENSP00000282091.1:p.Val89Ile
ENST00000529816.1:c.265G>A ENSP00000433208.1:p.Val89Ile
NM_000315.2:c.265G>A NP_000306.1:p.Val89Ile
NM_000315.3:c.265G>A NP_000306.1:p.Val89Ile
NM_001316352.1:c.361G>A NP_001303281.1:p.Val121Ile
NM_000315.4:c.265G>A MANE Select NP_000306.1:p.Val89Ile
NM_001316352.2:c.361G>A NP_001303281.1:p.Val121Ile
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