Canonical Allele Identifier: CA124699
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15080
ClinVar RCV Id: RCV000016233
dbSNP Id: rs34383555
COSMIC: COSM6069165
MyVariant Identifiers: chr11:g.5255426G>T (hg19) chr11:g.5234196G>T (hg38)
PubMed: PMID:11939506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234196G>T , CM000673.2:g.5234196G>T GRCh38
NC_000011.9:g.5255426G>T , CM000673.1:g.5255426G>T GRCh37
NC_000011.8:g.5212002G>T NCBI36
NG_000007.3:g.63420C>A
NG_063112.2:g.14462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.110C>A ENSP00000494708.1:p.Pro37His
ENST00000650601.1:c.110C>A MANE Select ENSP00000497529.1:p.Pro37His
ENST00000292901.7:c.110C>A ENSP00000292901.3:p.Pro37His
ENST00000380299.3:c.110C>A ENSP00000369654.3:p.Pro37His
ENST00000417377.1:c.92+146C>A ENSP00000414741.1:n.92+146C>A
ENST00000429817.1:c.110C>A ENSP00000393810.1:p.Pro37His
NM_000519.3:c.110C>A NP_000510.1:p.Pro37His
NM_000519.4:c.110C>A MANE Select NP_000510.1:p.Pro37His
Search 100 bp 5'
Search 100 bp 3'