Canonical Allele Identifier: CA2612149379

Gene: HBD

Linked Data

• gnomAD v4: 11-5234460-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234460C>A , CM000673.2:g.5234460C>A	GRCh38
NC_000011.9:g.5255690C>A , CM000673.1:g.5255690C>A	GRCh37
NC_000011.8:g.5212266C>A	NCBI36
NG_000007.3:g.63156G>T
NG_063112.2:g.14198G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-27G>T	ENSP00000494708.1:n.-27G>T
ENST00000650601.1:c.-27G>T MANE Select	ENSP00000497529.1:n.-27G>T
ENST00000292901.7:c.-27G>T	ENSP00000292901.3:n.-27G>T
ENST00000380299.3:c.-27G>T	ENSP00000369654.3:n.-27G>T
ENST00000417377.1:c.-27G>T	ENSP00000414741.1:n.-27G>T
ENST00000429817.1:c.-27G>T	ENSP00000393810.1:n.-27G>T
NM_000519.3:c.-27G>T	NP_000510.1:n.-27G>T
NM_000519.4:c.-27G>T MANE Select	NP_000510.1:n.-27G>T