Canonical Allele Identifier: CA379724719
Gene: PTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.13514143C>A (hg19) chr11:g.13492596C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492596C>A , CM000673.2:g.13492596C>A GRCh38
NC_000011.9:g.13514143C>A , CM000673.1:g.13514143C>A GRCh37
NC_000011.8:g.13470719C>A NCBI36
NG_008962.1:g.8425G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.157G>T MANE Select ENSP00000282091.1:p.Glu53Ter
ENST00000282091.5:c.157G>T ENSP00000282091.1:p.Glu53Ter
ENST00000529816.1:c.157G>T ENSP00000433208.1:p.Glu53Ter
NM_000315.2:c.157G>T NP_000306.1:p.Glu53Ter
NM_000315.3:c.157G>T NP_000306.1:p.Glu53Ter
NM_001316352.1:c.253G>T NP_001303281.1:p.Glu85Ter
NM_000315.4:c.157G>T MANE Select NP_000306.1:p.Glu53Ter
NM_001316352.2:c.253G>T NP_001303281.1:p.Glu85Ter
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