Canonical Allele Identifier: CA472885888
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5255395C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234165C>G , CM000673.2:g.5234165C>G GRCh38
NC_000011.9:g.5255395C>G , CM000673.1:g.5255395C>G GRCh37
NC_000011.8:g.5211971C>G NCBI36
NG_000007.3:g.63451G>C
NG_063112.2:g.14493G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.141G>C ENSP00000494708.1:p.Gly47=
ENST00000650601.1:c.141G>C MANE Select ENSP00000497529.1:p.Gly47=
ENST00000292901.7:c.141G>C ENSP00000292901.3:p.Gly47=
ENST00000380299.3:c.141G>C ENSP00000369654.3:p.Gly47=
ENST00000417377.1:c.92+177G>C ENSP00000414741.1:n.92+177G>C
ENST00000429817.1:c.141G>C ENSP00000393810.1:p.Gly47=
NM_000519.3:c.141G>C NP_000510.1:p.Gly47=
NM_000519.4:c.141G>C MANE Select NP_000510.1:p.Gly47=
Search 100 bp 5'
Search 100 bp 3'