Canonical Allele Identifier: CA1949566167
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs866949719
gnomAD v4: 11-5234588-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234588G>T , CM000673.2:g.5234588G>T GRCh38
NC_000011.9:g.5255818G>T , CM000673.1:g.5255818G>T GRCh37
NC_000011.8:g.5212394G>T NCBI36
NG_000007.3:g.63028C>A
NG_063112.2:g.14070C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-127C>A ENSP00000494708.1:n.-28-127C>A
ENST00000380299.3:c.-155C>A ENSP00000369654.3:n.-155C>A
ENST00000429817.1:c.-97-58C>A ENSP00000393810.1:n.-97-58C>A
NM_000519.3:c.-155C>A NP_000510.1:n.-155C>A
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