Canonical Allele Identifier: CA597218689
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1564879456
gnomAD v2: 11-5255706-G-T
gnomAD v4: 11-5234476-G-T
MyVariant Identifiers: chr11:g.5255706G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234476G>T , CM000673.2:g.5234476G>T GRCh38
NC_000011.9:g.5255706G>T , CM000673.1:g.5255706G>T GRCh37
NC_000011.8:g.5212282G>T NCBI36
NG_000007.3:g.63140C>A
NG_063112.2:g.14182C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-15C>A ENSP00000494708.1:n.-28-15C>A
ENST00000650601.1:c.-43C>A MANE Select ENSP00000497529.1:n.-43C>A
ENST00000292901.7:c.-43C>A ENSP00000292901.3:n.-43C>A
ENST00000380299.3:c.-43C>A ENSP00000369654.3:n.-43C>A
ENST00000417377.1:c.-43C>A ENSP00000414741.1:n.-43C>A
ENST00000429817.1:c.-43C>A ENSP00000393810.1:n.-43C>A
NM_000519.3:c.-43C>A NP_000510.1:n.-43C>A
NM_000519.4:c.-43C>A MANE Select NP_000510.1:n.-43C>A
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