Canonical Allele Identifier: CA1949566163

Gene: HBD

Linked Data

• dbSNP Id: rs1847718249
• gnomAD v4: 11-5234583-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234583A>G , CM000673.2:g.5234583A>G	GRCh38
NC_000011.9:g.5255813A>G , CM000673.1:g.5255813A>G	GRCh37
NC_000011.8:g.5212389A>G	NCBI36
NG_000007.3:g.63033T>C
NG_063112.2:g.14075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-122T>C	ENSP00000494708.1:n.-28-122T>C
ENST00000380299.3:c.-150T>C	ENSP00000369654.3:n.-150T>C
ENST00000429817.1:c.-97-53T>C	ENSP00000393810.1:n.-97-53T>C
NM_000519.3:c.-150T>C	NP_000510.1:n.-150T>C