Canonical Allele Identifier: CA1949565998
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1214087114

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234462C>T , CM000673.2:g.5234462C>T GRCh38
NC_000011.9:g.5255692C>T , CM000673.1:g.5255692C>T GRCh37
NC_000011.8:g.5212268C>T NCBI36
NG_000007.3:g.63154G>A
NG_063112.2:g.14196G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-1G>A ENSP00000494708.1:n.-28-1G>A
ENST00000650601.1:c.-29G>A MANE Select ENSP00000497529.1:n.-29G>A
ENST00000292901.7:c.-29G>A ENSP00000292901.3:n.-29G>A
ENST00000380299.3:c.-29G>A ENSP00000369654.3:n.-29G>A
ENST00000417377.1:c.-29G>A ENSP00000414741.1:n.-29G>A
ENST00000429817.1:c.-29G>A ENSP00000393810.1:n.-29G>A
NM_000519.3:c.-29G>A NP_000510.1:n.-29G>A
NM_000519.4:c.-29G>A MANE Select NP_000510.1:n.-29G>A