Canonical Allele Identifier: CA379724523
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514047T>G (hg19) chr11:g.13492500T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492500T>G , CM000673.2:g.13492500T>G GRCh38
NC_000011.9:g.13514047T>G , CM000673.1:g.13514047T>G GRCh37
NC_000011.8:g.13470623T>G NCBI36
NG_008962.1:g.8521A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.253A>C MANE Select ENSP00000282091.1:p.Lys85Gln
ENST00000282091.5:c.253A>C ENSP00000282091.1:p.Lys85Gln
ENST00000529816.1:c.253A>C ENSP00000433208.1:p.Lys85Gln
NM_000315.2:c.253A>C NP_000306.1:p.Lys85Gln
NM_000315.3:c.253A>C NP_000306.1:p.Lys85Gln
NM_001316352.1:c.349A>C NP_001303281.1:p.Lys117Gln
NM_000315.4:c.253A>C MANE Select NP_000306.1:p.Lys85Gln
NM_001316352.2:c.349A>C NP_001303281.1:p.Lys117Gln
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