Canonical Allele Identifier: CA379277057
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5255393T>C (hg19) chr11:g.5234163T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234163T>C , CM000673.2:g.5234163T>C GRCh38
NC_000011.9:g.5255393T>C , CM000673.1:g.5255393T>C GRCh37
NC_000011.8:g.5211969T>C NCBI36
NG_000007.3:g.63453A>G
NG_063112.2:g.14495A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.143A>G ENSP00000494708.1:p.Asp48Gly
ENST00000650601.1:c.143A>G MANE Select ENSP00000497529.1:p.Asp48Gly
ENST00000292901.7:c.143A>G ENSP00000292901.3:p.Asp48Gly
ENST00000380299.3:c.143A>G ENSP00000369654.3:p.Asp48Gly
ENST00000417377.1:c.92+179A>G ENSP00000414741.1:n.92+179A>G
ENST00000429817.1:c.143A>G ENSP00000393810.1:p.Asp48Gly
NM_000519.3:c.143A>G NP_000510.1:p.Asp48Gly
NM_000519.4:c.143A>G MANE Select NP_000510.1:p.Asp48Gly
Search 100 bp 5'
Search 100 bp 3'