Canonical Allele Identifier: CA2612149487

Gene: HBD

Linked Data

• gnomAD v4: 11-5234566-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234566G>C , CM000673.2:g.5234566G>C	GRCh38
NC_000011.9:g.5255796G>C , CM000673.1:g.5255796G>C	GRCh37
NC_000011.8:g.5212372G>C	NCBI36
NG_000007.3:g.63050C>G
NG_063112.2:g.14092C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-105C>G	ENSP00000494708.1:n.-28-105C>G
ENST00000380299.3:c.-133C>G	ENSP00000369654.3:n.-133C>G
ENST00000429817.1:c.-97-36C>G	ENSP00000393810.1:n.-97-36C>G
NM_000519.3:c.-133C>G	NP_000510.1:n.-133C>G