Canonical Allele Identifier: CA1949563397
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1847688070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232920G>A , CM000673.2:g.5232920G>A GRCh38
NC_000011.9:g.5254150G>A , CM000673.1:g.5254150G>A GRCh37
NC_000011.8:g.5210726G>A NCBI36
NG_000007.3:g.64696C>T
NG_063112.2:g.15738C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.*44C>T ENSP00000494708.1:n.*44C>T
ENST00000650601.1:c.*44C>T MANE Select ENSP00000497529.1:n.*44C>T
ENST00000292901.7:c.316-122C>T ENSP00000292901.3:n.316-122C>T
ENST00000380299.3:c.*44C>T ENSP00000369654.3:n.*44C>T
NM_000519.3:c.*44C>T NP_000510.1:n.*44C>T
NM_000519.4:c.*44C>T MANE Select NP_000510.1:n.*44C>T
Search 100 bp 5'
Search 100 bp 3'