Canonical Allele Identifier: CA6839548

Gene: HPD

Linked Data

• dbSNP Id: rs139011128
• ExAC: 12:122284880 T / C
• gnomAD v2: 12-122284880-T-C
• gnomAD v3: 12-121846974-T-C
• gnomAD v4: 12-121846974-T-C
• MyVariant Identifiers: chr12:g.122284880T>C (hg19) ; chr12:g.121846974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846974T>C , CM000674.2:g.121846974T>C	GRCh38
NC_000012.11:g.122284880T>C , CM000674.1:g.122284880T>C	GRCh37
NC_000012.10:g.120769263T>C	NCBI36
NG_016461.1:g.46638A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-41A>G MANE Select	ENSP00000289004.4:n.760-41A>G
ENST00000543163.5:c.643-41A>G	ENSP00000441677.1:n.643-41A>G
NM_001171993.1:c.643-41A>G	NP_001165464.1:n.643-41A>G
NM_002150.2:c.760-41A>G	NP_002141.1:n.760-41A>G
NM_002150.3:c.760-41A>G MANE Select	NP_002141.2:n.760-41A>G
NM_001171993.2:c.643-41A>G	NP_001165464.1:n.643-41A>G