Canonical Allele Identifier: CA473263539
Gene: PTH HGNC NCBI

Linked Data

dbSNP Id: rs1351486691
gnomAD v2: 11-13514135-C-T
gnomAD v4: 11-13492588-C-T
MyVariant Identifiers: chr11:g.13514135C>T (hg19) chr11:g.13492588C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492588C>T , CM000673.2:g.13492588C>T GRCh38
NC_000011.9:g.13514135C>T , CM000673.1:g.13514135C>T GRCh37
NC_000011.8:g.13470711C>T NCBI36
NG_008962.1:g.8433G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.165G>A MANE Select ENSP00000282091.1:p.Leu55=
ENST00000282091.5:c.165G>A ENSP00000282091.1:p.Leu55=
ENST00000529816.1:c.165G>A ENSP00000433208.1:p.Leu55=
NM_000315.2:c.165G>A NP_000306.1:p.Leu55=
NM_000315.3:c.165G>A NP_000306.1:p.Leu55=
NM_001316352.1:c.261G>A NP_001303281.1:p.Leu87=
NM_000315.4:c.165G>A MANE Select NP_000306.1:p.Leu55=
NM_001316352.2:c.261G>A NP_001303281.1:p.Leu87=
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