Canonical Allele Identifier: CA2612149648

Gene: HBD

Linked Data

• gnomAD v4: 11-5234687-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234687T>G , CM000673.2:g.5234687T>G	GRCh38
NC_000011.9:g.5255917T>G , CM000673.1:g.5255917T>G	GRCh37
NC_000011.8:g.5212493T>G	NCBI36
NG_000007.3:g.62929A>C
NG_063112.2:g.13971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-226A>C	ENSP00000494708.1:n.-28-226A>C
ENST00000429817.1:c.-97-157A>C	ENSP00000393810.1:n.-97-157A>C