Canonical Allele Identifier: CA2790274464
Gene: HBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234703C>G , CM000673.2:g.5234703C>G GRCh38
NC_000011.9:g.5255933C>G , CM000673.1:g.5255933C>G GRCh37
NC_000011.8:g.5212509C>G NCBI36
NG_000007.3:g.62913G>C
NG_063112.2:g.13955G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-242G>C ENSP00000494708.1:n.-28-242G>C
ENST00000429817.1:c.-97-173G>C ENSP00000393810.1:n.-97-173G>C