Canonical Allele Identifier: CA379724522
Gene: PTH HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.253A>G MANE Select ENSP00000282091.1:p.Lys85Glu
ENST00000282091.5:c.253A>G ENSP00000282091.1:p.Lys85Glu
ENST00000529816.1:c.253A>G ENSP00000433208.1:p.Lys85Glu
NM_000315.2:c.253A>G NP_000306.1:p.Lys85Glu
NM_000315.3:c.253A>G NP_000306.1:p.Lys85Glu
NM_001316352.1:c.349A>G NP_001303281.1:p.Lys117Glu
NM_000315.4:c.253A>G MANE Select NP_000306.1:p.Lys85Glu
NM_001316352.2:c.349A>G NP_001303281.1:p.Lys117Glu
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