Canonical Allele Identifier: CA1949566157
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234582G= , CM000673.2:g.5234582G= GRCh38
NC_000011.9:g.5255812G= , CM000673.1:g.5255812G= GRCh37
NC_000011.8:g.5212388G= NCBI36
NG_000007.3:g.63034C=
NG_063112.2:g.14076C=

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-121C= ENSP00000494708.1:n.-28-121C=
ENST00000380299.3:c.-149C= ENSP00000369654.3:n.-149C=
ENST00000429817.1:c.-97-52C= ENSP00000393810.1:n.-97-52C=
NM_000519.3:c.-149C= NP_000510.1:n.-149C=