Canonical Allele Identifier: CA379724705
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514137G>T (hg19) chr11:g.13492590G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492590G>T , CM000673.2:g.13492590G>T GRCh38
NC_000011.9:g.13514137G>T , CM000673.1:g.13514137G>T GRCh37
NC_000011.8:g.13470713G>T NCBI36
NG_008962.1:g.8431C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.163C>A MANE Select ENSP00000282091.1:p.Leu55Met
ENST00000282091.5:c.163C>A ENSP00000282091.1:p.Leu55Met
ENST00000529816.1:c.163C>A ENSP00000433208.1:p.Leu55Met
NM_000315.2:c.163C>A NP_000306.1:p.Leu55Met
NM_000315.3:c.163C>A NP_000306.1:p.Leu55Met
NM_001316352.1:c.259C>A NP_001303281.1:p.Leu87Met
NM_000315.4:c.163C>A MANE Select NP_000306.1:p.Leu55Met
NM_001316352.2:c.259C>A NP_001303281.1:p.Leu87Met
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