Canonical Allele Identifier: CA379724491
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514035C>G (hg19) chr11:g.13492488C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.265G>C MANE Select ENSP00000282091.1:p.Val89Leu
ENST00000282091.5:c.265G>C ENSP00000282091.1:p.Val89Leu
ENST00000529816.1:c.265G>C ENSP00000433208.1:p.Val89Leu
NM_000315.2:c.265G>C NP_000306.1:p.Val89Leu
NM_000315.3:c.265G>C NP_000306.1:p.Val89Leu
NM_001316352.1:c.361G>C NP_001303281.1:p.Val121Leu
NM_000315.4:c.265G>C MANE Select NP_000306.1:p.Val89Leu
NM_001316352.2:c.361G>C NP_001303281.1:p.Val121Leu
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