Canonical Allele Identifier: CA124695
Gene: HBD HGNC NCBI

Linked Data

ClinVar Variation Id: 15078
ClinVar RCV Id: RCV000016231
dbSNP Id: rs36084266
gnomAD v4: 11-5234175-T-C
MyVariant Identifiers: chr11:g.5255405T>C (hg19) chr11:g.5234175T>C (hg38)
PubMed: PMID:8537235
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234175T>C , CM000673.2:g.5234175T>C GRCh38
NC_000011.9:g.5255405T>C , CM000673.1:g.5255405T>C GRCh37
NC_000011.8:g.5211981T>C NCBI36
NG_000007.3:g.63441A>G
NG_063112.2:g.14483A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.131A>G ENSP00000494708.1:p.Glu44Gly
ENST00000650601.1:c.131A>G MANE Select ENSP00000497529.1:p.Glu44Gly
ENST00000292901.7:c.131A>G ENSP00000292901.3:p.Glu44Gly
ENST00000380299.3:c.131A>G ENSP00000369654.3:p.Glu44Gly
ENST00000417377.1:c.92+167A>G ENSP00000414741.1:n.92+167A>G
ENST00000429817.1:c.131A>G ENSP00000393810.1:p.Glu44Gly
NM_000519.3:c.131A>G NP_000510.1:p.Glu44Gly
NM_000519.4:c.131A>G MANE Select NP_000510.1:p.Glu44Gly
Search 100 bp 5'
Search 100 bp 3'