Canonical Allele Identifier: CA472885898
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234174-C-T
MyVariant Identifiers: chr11:g.5255404C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234174C>T , CM000673.2:g.5234174C>T GRCh38
NC_000011.9:g.5255404C>T , CM000673.1:g.5255404C>T GRCh37
NC_000011.8:g.5211980C>T NCBI36
NG_000007.3:g.63442G>A
NG_063112.2:g.14484G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.132G>A ENSP00000494708.1:p.Glu44=
ENST00000650601.1:c.132G>A MANE Select ENSP00000497529.1:p.Glu44=
ENST00000292901.7:c.132G>A ENSP00000292901.3:p.Glu44=
ENST00000380299.3:c.132G>A ENSP00000369654.3:p.Glu44=
ENST00000417377.1:c.92+168G>A ENSP00000414741.1:n.92+168G>A
ENST00000429817.1:c.132G>A ENSP00000393810.1:p.Glu44=
NM_000519.3:c.132G>A NP_000510.1:p.Glu44=
NM_000519.4:c.132G>A MANE Select NP_000510.1:p.Glu44=
Search 100 bp 5'
Search 100 bp 3'