Canonical Allele Identifier: CA1949564636

Gene: HBD

Linked Data

• dbSNP Id: rs1847700388
• gnomAD v3: 11-5233818-G-C
• gnomAD v4: 11-5233818-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233818G>C , CM000673.2:g.5233818G>C	GRCh38
NC_000011.9:g.5255048G>C , CM000673.1:g.5255048G>C	GRCh37
NC_000011.8:g.5211624G>C	NCBI36
NG_000007.3:g.63798C>G
NG_063112.2:g.14840C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.315+173C>G	ENSP00000494708.1:n.315+173C>G
ENST00000650601.1:c.315+173C>G MANE Select	ENSP00000497529.1:n.315+173C>G
ENST00000292901.7:c.315+173C>G	ENSP00000292901.3:n.315+173C>G
ENST00000380299.3:c.315+173C>G	ENSP00000369654.3:n.315+173C>G
ENST00000417377.1:c.92+524C>G	ENSP00000414741.1:n.92+524C>G
NM_000519.3:c.315+173C>G	NP_000510.1:n.315+173C>G
NM_000519.4:c.315+173C>G MANE Select	NP_000510.1:n.315+173C>G