Canonical Allele Identifier: CA387012547

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284787G>A (hg19) ; chr12:g.121846881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846881G>A , CM000674.2:g.121846881G>A	GRCh38
NC_000012.11:g.122284787G>A , CM000674.1:g.122284787G>A	GRCh37
NC_000012.10:g.120769170G>A	NCBI36
NG_016461.1:g.46731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.812C>T MANE Select	ENSP00000289004.4:p.Thr271Ile
ENST00000543163.5:c.695C>T	ENSP00000441677.1:p.Thr232Ile
NM_001171993.1:c.695C>T	NP_001165464.1:p.Thr232Ile
NM_002150.2:c.812C>T	NP_002141.1:p.Thr271Ile
NM_002150.3:c.812C>T MANE Select	NP_002141.2:p.Thr271Ile
NM_001171993.2:c.695C>T	NP_001165464.1:p.Thr232Ile