Canonical Allele Identifier: CA2612149561

Gene: HBD

Linked Data

• gnomAD v4: 11-5234627-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234627C>A , CM000673.2:g.5234627C>A	GRCh38
NC_000011.9:g.5255857C>A , CM000673.1:g.5255857C>A	GRCh37
NC_000011.8:g.5212433C>A	NCBI36
NG_000007.3:g.62989G>T
NG_063112.2:g.14031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-166G>T	ENSP00000494708.1:n.-28-166G>T
ENST00000380299.3:c.-194G>T	ENSP00000369654.3:n.-194G>T
ENST00000429817.1:c.-97-97G>T	ENSP00000393810.1:n.-97-97G>T
NM_000519.3:c.-194G>T	NP_000510.1:n.-194G>T