Canonical Allele Identifier: CA217123655
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs34920509
MyVariant Identifiers: chr11:g.5255040A>C (hg19) chr11:g.5233810A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233810A>C , CM000673.2:g.5233810A>C GRCh38
NC_000011.9:g.5255040A>C , CM000673.1:g.5255040A>C GRCh37
NC_000011.8:g.5211616A>C NCBI36
NG_000007.3:g.63806T>G
NG_063112.2:g.14848T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+181T>G ENSP00000494708.1:n.315+181T>G
ENST00000650601.1:c.315+181T>G MANE Select ENSP00000497529.1:n.315+181T>G
ENST00000292901.7:c.315+181T>G ENSP00000292901.3:n.315+181T>G
ENST00000380299.3:c.315+181T>G ENSP00000369654.3:n.315+181T>G
ENST00000417377.1:c.92+532T>G ENSP00000414741.1:n.92+532T>G
NM_000519.3:c.315+181T>G NP_000510.1:n.315+181T>G
NM_000519.4:c.315+181T>G MANE Select NP_000510.1:n.315+181T>G
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