Canonical Allele Identifier: CA1949566020
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1847716929
gnomAD v4: 11-5234483-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234483T>G , CM000673.2:g.5234483T>G GRCh38
NC_000011.9:g.5255713T>G , CM000673.1:g.5255713T>G GRCh37
NC_000011.8:g.5212289T>G NCBI36
NG_000007.3:g.63133A>C
NG_063112.2:g.14175A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-22A>C ENSP00000494708.1:n.-28-22A>C
ENST00000650601.1:c.-50A>C MANE Select ENSP00000497529.1:n.-50A>C
ENST00000292901.7:c.-50A>C ENSP00000292901.3:n.-50A>C
ENST00000380299.3:c.-50A>C ENSP00000369654.3:n.-50A>C
ENST00000417377.1:c.-50A>C ENSP00000414741.1:n.-50A>C
ENST00000429817.1:c.-50A>C ENSP00000393810.1:n.-50A>C
NM_000519.3:c.-50A>C NP_000510.1:n.-50A>C
NM_000519.4:c.-50A>C MANE Select NP_000510.1:n.-50A>C
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