Canonical Allele Identifier: CA2844629211

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234551G>C , CM000673.2:g.5234551G>C	GRCh38
NC_000011.9:g.5255781G>C , CM000673.1:g.5255781G>C	GRCh37
NC_000011.8:g.5212357G>C	NCBI36
NG_000007.3:g.63065C>G
NG_063112.2:g.14107C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-90C>G	ENSP00000494708.1:n.-28-90C>G
ENST00000380299.3:c.-118C>G	ENSP00000369654.3:n.-118C>G
ENST00000429817.1:c.-97-21C>G	ENSP00000393810.1:n.-97-21C>G
NM_000519.3:c.-118C>G	NP_000510.1:n.-118C>G