Canonical Allele Identifier: CA244671188

Gene: HPD

Linked Data

• dbSNP Id: rs373627459
• MyVariant Identifiers: chr12:g.122284775A>G (hg19) ; chr12:g.121846869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846869A>G , CM000674.2:g.121846869A>G	GRCh38
NC_000012.11:g.122284775A>G , CM000674.1:g.122284775A>G	GRCh37
NC_000012.10:g.120769158A>G	NCBI36
NG_016461.1:g.46743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.824T>C MANE Select	ENSP00000289004.4:p.Ile275Thr
ENST00000543163.5:c.707T>C	ENSP00000441677.1:p.Ile236Thr
NM_001171993.1:c.707T>C	NP_001165464.1:p.Ile236Thr
NM_002150.2:c.824T>C	NP_002141.1:p.Ile275Thr
NM_002150.3:c.824T>C MANE Select	NP_002141.2:p.Ile275Thr
NM_001171993.2:c.707T>C	NP_001165464.1:p.Ile236Thr