Canonical Allele Identifier: CA6839544
Gene: HPD HGNC NCBI

Linked Data

dbSNP Id: rs771196632
ExAC: 12:122284866 T / C
gnomAD v2: 12-122284866-T-C
gnomAD v3: 12-121846960-T-C
gnomAD v4: 12-121846960-T-C
MyVariant Identifiers: chr12:g.122284866T>C (hg19) chr12:g.121846960T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846960T>C , CM000674.2:g.121846960T>C GRCh38
NC_000012.11:g.122284866T>C , CM000674.1:g.122284866T>C GRCh37
NC_000012.10:g.120769249T>C NCBI36
NG_016461.1:g.46652A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.760-27A>G MANE Select ENSP00000289004.4:n.760-27A>G
ENST00000543163.5:c.643-27A>G ENSP00000441677.1:n.643-27A>G
NM_001171993.1:c.643-27A>G NP_001165464.1:n.643-27A>G
NM_002150.2:c.760-27A>G NP_002141.1:n.760-27A>G
NM_002150.3:c.760-27A>G MANE Select NP_002141.2:n.760-27A>G
NM_001171993.2:c.643-27A>G NP_001165464.1:n.643-27A>G
Search 100 bp 5'
Search 100 bp 3'