Canonical Allele Identifier: CA934688719
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1847700159
gnomAD v3: 11-5233801-T-A
gnomAD v4: 11-5233801-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233801T>A , CM000673.2:g.5233801T>A GRCh38
NC_000011.9:g.5255031T>A , CM000673.1:g.5255031T>A GRCh37
NC_000011.8:g.5211607T>A NCBI36
NG_000007.3:g.63815A>T
NG_063112.2:g.14857A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.315+190A>T ENSP00000494708.1:n.315+190A>T
ENST00000650601.1:c.315+190A>T MANE Select ENSP00000497529.1:n.315+190A>T
ENST00000292901.7:c.315+190A>T ENSP00000292901.3:n.315+190A>T
ENST00000380299.3:c.315+190A>T ENSP00000369654.3:n.315+190A>T
ENST00000417377.1:c.92+541A>T ENSP00000414741.1:n.92+541A>T
NM_000519.3:c.315+190A>T NP_000510.1:n.315+190A>T
NM_000519.4:c.315+190A>T MANE Select NP_000510.1:n.315+190A>T
Search 100 bp 5'
Search 100 bp 3'