Canonical Allele Identifier: CA2612149492

Gene: HBD

Linked Data

• gnomAD v4: 11-5234572-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234572A>G , CM000673.2:g.5234572A>G	GRCh38
NC_000011.9:g.5255802A>G , CM000673.1:g.5255802A>G	GRCh37
NC_000011.8:g.5212378A>G	NCBI36
NG_000007.3:g.63044T>C
NG_063112.2:g.14086T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-111T>C	ENSP00000494708.1:n.-28-111T>C
ENST00000380299.3:c.-139T>C	ENSP00000369654.3:n.-139T>C
ENST00000429817.1:c.-97-42T>C	ENSP00000393810.1:n.-97-42T>C
NM_000519.3:c.-139T>C	NP_000510.1:n.-139T>C