Canonical Allele Identifier: CA2612149395
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234481-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234481T>C , CM000673.2:g.5234481T>C GRCh38
NC_000011.9:g.5255711T>C , CM000673.1:g.5255711T>C GRCh37
NC_000011.8:g.5212287T>C NCBI36
NG_000007.3:g.63135A>G
NG_063112.2:g.14177A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-20A>G ENSP00000494708.1:n.-28-20A>G
ENST00000650601.1:c.-48A>G MANE Select ENSP00000497529.1:n.-48A>G
ENST00000292901.7:c.-48A>G ENSP00000292901.3:n.-48A>G
ENST00000380299.3:c.-48A>G ENSP00000369654.3:n.-48A>G
ENST00000417377.1:c.-48A>G ENSP00000414741.1:n.-48A>G
ENST00000429817.1:c.-48A>G ENSP00000393810.1:n.-48A>G
NM_000519.3:c.-48A>G NP_000510.1:n.-48A>G
NM_000519.4:c.-48A>G MANE Select NP_000510.1:n.-48A>G
Search 100 bp 5'
Search 100 bp 3'