Canonical Allele Identifier: CA2612149385

Gene: HBD

Linked Data

• gnomAD v4: 11-5234468-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234468T>A , CM000673.2:g.5234468T>A	GRCh38
NC_000011.9:g.5255698T>A , CM000673.1:g.5255698T>A	GRCh37
NC_000011.8:g.5212274T>A	NCBI36
NG_000007.3:g.63148A>T
NG_063112.2:g.14190A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-7A>T	ENSP00000494708.1:n.-28-7A>T
ENST00000650601.1:c.-35A>T MANE Select	ENSP00000497529.1:n.-35A>T
ENST00000292901.7:c.-35A>T	ENSP00000292901.3:n.-35A>T
ENST00000380299.3:c.-35A>T	ENSP00000369654.3:n.-35A>T
ENST00000417377.1:c.-35A>T	ENSP00000414741.1:n.-35A>T
ENST00000429817.1:c.-35A>T	ENSP00000393810.1:n.-35A>T
NM_000519.3:c.-35A>T	NP_000510.1:n.-35A>T
NM_000519.4:c.-35A>T MANE Select	NP_000510.1:n.-35A>T