Canonical Allele Identifier: CA482174904

Gene: HPD TIALD

Linked Data

• MyVariant Identifiers: chr12:g.122295255G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857349G>A , CM000674.2:g.121857349G>A	GRCh38
NC_000012.11:g.122295255G>A , CM000674.1:g.122295255G>A	GRCh37
NC_000012.10:g.120779638G>A	NCBI36
NG_016461.1:g.36263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.177C>T (HPD) MANE Select	ENSP00000289004.4:p.Ser59=
ENST00000535114.1:n.533C>T (HPD)
ENST00000542159.2:n.235C>T (HPD)
ENST00000543163.5:c.60C>T (HPD)	ENSP00000441677.1:p.Ser20=
NM_001171993.1:c.60C>T (HPD)	NP_001165464.1:p.Ser20=
NM_002150.2:c.177C>T (HPD)	NP_002141.1:p.Ser59=
XR_002957437.1:n.324-270G>A (TIALD)
NM_002150.3:c.177C>T (HPD) MANE Select	NP_002141.2:p.Ser59=
NM_001171993.2:c.60C>T (HPD)	NP_001165464.1:p.Ser20=