Canonical Allele Identifier: CA1949564496
Gene: HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233707C= , CM000673.2:g.5233707C= GRCh38
NC_000011.9:g.5254937C= , CM000673.1:g.5254937C= GRCh37
NC_000011.8:g.5211513C= NCBI36
NG_000007.3:g.63909G=
NG_063112.2:g.14951G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.315+284G= ENSP00000494708.1:n.315+284G=
ENST00000650601.1:c.315+284G= MANE Select ENSP00000497529.1:n.315+284G=
ENST00000292901.7:c.315+284G= ENSP00000292901.3:n.315+284G=
ENST00000380299.3:c.315+284G= ENSP00000369654.3:n.315+284G=
ENST00000417377.1:c.93-615G= ENSP00000414741.1:n.93-615G=
NM_000519.3:c.315+284G= NP_000510.1:n.315+284G=
NM_000519.4:c.315+284G= MANE Select NP_000510.1:n.315+284G=
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