Canonical Allele Identifier: CA2612148713
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1041718543
gnomAD v4: 11-5233872-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233872C>G , CM000673.2:g.5233872C>G GRCh38
NC_000011.9:g.5255102C>G , CM000673.1:g.5255102C>G GRCh37
NC_000011.8:g.5211678C>G NCBI36
NG_000007.3:g.63744G>C
NG_063112.2:g.14786G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.315+119G>C ENSP00000494708.1:n.315+119G>C
ENST00000650601.1:c.315+119G>C MANE Select ENSP00000497529.1:n.315+119G>C
ENST00000292901.7:c.315+119G>C ENSP00000292901.3:n.315+119G>C
ENST00000380299.3:c.315+119G>C ENSP00000369654.3:n.315+119G>C
ENST00000417377.1:c.92+470G>C ENSP00000414741.1:n.92+470G>C
NM_000519.3:c.315+119G>C NP_000510.1:n.315+119G>C
NM_000519.4:c.315+119G>C MANE Select NP_000510.1:n.315+119G>C
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