Canonical Allele Identifier: CA379724717
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514142T>C (hg19) chr11:g.13492595T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492595T>C , CM000673.2:g.13492595T>C GRCh38
NC_000011.9:g.13514142T>C , CM000673.1:g.13514142T>C GRCh37
NC_000011.8:g.13470718T>C NCBI36
NG_008962.1:g.8426A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.158A>G MANE Select ENSP00000282091.1:p.Glu53Gly
ENST00000282091.5:c.158A>G ENSP00000282091.1:p.Glu53Gly
ENST00000529816.1:c.158A>G ENSP00000433208.1:p.Glu53Gly
NM_000315.2:c.158A>G NP_000306.1:p.Glu53Gly
NM_000315.3:c.158A>G NP_000306.1:p.Glu53Gly
NM_001316352.1:c.254A>G NP_001303281.1:p.Glu85Gly
NM_000315.4:c.158A>G MANE Select NP_000306.1:p.Glu53Gly
NM_001316352.2:c.254A>G NP_001303281.1:p.Glu85Gly
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