Canonical Allele Identifier: CA472885984
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5255317A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234087A>G , CM000673.2:g.5234087A>G GRCh38
NC_000011.9:g.5255317A>G , CM000673.1:g.5255317A>G GRCh37
NC_000011.8:g.5211893A>G NCBI36
NG_000007.3:g.63529T>C
NG_063112.2:g.14571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.219T>C ENSP00000494708.1:p.Ser73=
ENST00000650601.1:c.219T>C MANE Select ENSP00000497529.1:p.Ser73=
ENST00000292901.7:c.219T>C ENSP00000292901.3:p.Ser73=
ENST00000380299.3:c.219T>C ENSP00000369654.3:p.Ser73=
ENST00000417377.1:c.92+255T>C ENSP00000414741.1:n.92+255T>C
ENST00000429817.1:c.219T>C ENSP00000393810.1:p.Ser73=
NM_000519.3:c.219T>C NP_000510.1:p.Ser73=
NM_000519.4:c.219T>C MANE Select NP_000510.1:p.Ser73=