Canonical Allele Identifier: CA123417
Gene: PTHLH HGNC NCBI

Linked Data

ClinVar Variation Id: 13740
ClinVar RCV Id: RCV000014747
dbSNP Id: rs267606987
MyVariant Identifiers: chr12:g.28111492T>C (hg19) chr12:g.27958559T>C (hg38)
PubMed: PMID:20170896
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.27958559T>C , CM000674.2:g.27958559T>C GRCh38
NC_000012.11:g.28111492T>C , CM000674.1:g.28111492T>C GRCh37
NC_000012.10:g.28002759T>C NCBI36
NG_023197.1:g.18425A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545234.6:c.534A>G MANE Select ENSP00000441765.1:p.Ter178Trp
ENST00000395872.5:c.534A>G ENSP00000379213.1:p.Ter178Trp
ENST00000539239.5:c.534A>G ENSP00000441571.1:p.Ter178Trp
ENST00000545234.5:c.534A>G ENSP00000441765.1:p.Ter178Trp
NM_198965.1:c.534A>G NP_945316.1:p.Ter178Trp
NM_198966.1:c.534A>G NP_945317.1:p.Ter178Trp
XM_011520774.1:c.534A>G XP_011519076.1:p.Ter178Trp
XM_011520775.1:c.534A>G XP_011519077.1:p.Ter178Trp
XM_011520774.2:c.534A>G XP_011519076.1:p.Ter178Trp
XM_011520775.2:c.534A>G XP_011519077.1:p.Ter178Trp
XM_017019675.1:c.534A>G XP_016875164.1:p.Ter178Trp
NM_198965.2:c.534A>G MANE Select NP_945316.1:p.Ter178Trp
NM_198966.2:c.534A>G NP_945317.1:p.Ter178Trp
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