Canonical Allele Identifier: CA387002461
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.122295326A>T (hg19) chr12:g.121857420A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857420A>T , CM000674.2:g.121857420A>T GRCh38
NC_000012.11:g.122295326A>T , CM000674.1:g.122295326A>T GRCh37
NC_000012.10:g.120779709A>T NCBI36
NG_016461.1:g.36192T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.106T>A (HPD) MANE Select ENSP00000289004.4:p.Tyr36Asn
ENST00000535114.1:n.462T>A (HPD)
ENST00000542159.2:n.164T>A (HPD)
ENST00000543163.5:c.-12T>A (HPD) ENSP00000441677.1:n.-12T>A
NM_001171993.1:c.-12T>A (HPD) NP_001165464.1:n.-12T>A
NM_002150.2:c.106T>A (HPD) NP_002141.1:p.Tyr36Asn
XR_002957437.1:n.324-199A>T (TIALD)
NM_002150.3:c.106T>A (HPD) MANE Select NP_002141.2:p.Tyr36Asn
NM_001171993.2:c.-12T>A (HPD) NP_001165464.1:n.-12T>A
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