Canonical Allele Identifier: CA2612149519

Gene: HBD

Linked Data

• gnomAD v4: 11-5234590-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234590A>C , CM000673.2:g.5234590A>C	GRCh38
NC_000011.9:g.5255820A>C , CM000673.1:g.5255820A>C	GRCh37
NC_000011.8:g.5212396A>C	NCBI36
NG_000007.3:g.63026T>G
NG_063112.2:g.14068T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-129T>G	ENSP00000494708.1:n.-28-129T>G
ENST00000380299.3:c.-157T>G	ENSP00000369654.3:n.-157T>G
ENST00000429817.1:c.-97-60T>G	ENSP00000393810.1:n.-97-60T>G
NM_000519.3:c.-157T>G	NP_000510.1:n.-157T>G