Canonical Allele Identifier: CA115068

Gene: HPD TIALD

Linked Data

• MyVariant Identifiers: chr12:g.122295335T>T (hg19) ; chr12:g.121857429T>T (hg38)
• PubMed: PMID:858207 ; PMID:1130176 ; PMID:1519651 ; PMID:11073718

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857429T= , CM000674.2:g.121857429T=	GRCh38
NC_000012.11:g.122295335T= , CM000674.1:g.122295335T=	GRCh37
NC_000012.10:g.120779718T=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.97A= (HPD) MANE Select	ENSP00000289004.4:p.Thr33=
ENST00000535114.1:n.453A= (HPD)
ENST00000542159.2:n.155A= (HPD)
ENST00000543163.5:c.-21A= (HPD)	ENSP00000441677.1:n.-21A=
XR_002957437.1:n.324-190T= (TIALD)
NM_002150.3:c.97A= (HPD) MANE Select	NP_002141.2:p.Thr33=
NM_001171993.2:c.-21A= (HPD)	NP_001165464.1:n.-21A=