Canonical Allele Identifier: CA387012653

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284802T>A (hg19) ; chr12:g.121846896T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846896T>A , CM000674.2:g.121846896T>A	GRCh38
NC_000012.11:g.122284802T>A , CM000674.1:g.122284802T>A	GRCh37
NC_000012.10:g.120769185T>A	NCBI36
NG_016461.1:g.46716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.797A>T MANE Select	ENSP00000289004.4:p.His266Leu
ENST00000543163.5:c.680A>T	ENSP00000441677.1:p.His227Leu
NM_001171993.1:c.680A>T	NP_001165464.1:p.His227Leu
NM_002150.2:c.797A>T	NP_002141.1:p.His266Leu
NM_002150.3:c.797A>T MANE Select	NP_002141.2:p.His266Leu
NM_001171993.2:c.680A>T	NP_001165464.1:p.His227Leu