Canonical Allele Identifier: CA387001896
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295243T>G (hg19) chr12:g.121857337T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857337T>G , CM000674.2:g.121857337T>G GRCh38
NC_000012.11:g.122295243T>G , CM000674.1:g.122295243T>G GRCh37
NC_000012.10:g.120779626T>G NCBI36
NG_016461.1:g.36275A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.189A>C (HPD) MANE Select ENSP00000289004.4:p.Lys63Asn
ENST00000535114.1:n.545A>C (HPD)
ENST00000542159.2:n.247A>C (HPD)
ENST00000543163.5:c.72A>C (HPD) ENSP00000441677.1:p.Lys24Asn
NM_001171993.1:c.72A>C (HPD) NP_001165464.1:p.Lys24Asn
NM_002150.2:c.189A>C (HPD) NP_002141.1:p.Lys63Asn
XR_002957437.1:n.324-282T>G (TIALD)
NM_002150.3:c.189A>C (HPD) MANE Select NP_002141.2:p.Lys63Asn
NM_001171993.2:c.72A>C (HPD) NP_001165464.1:p.Lys24Asn
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