Canonical Allele Identifier: CA472886015
Gene: HBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5255341G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234111G>C , CM000673.2:g.5234111G>C GRCh38
NC_000011.9:g.5255341G>C , CM000673.1:g.5255341G>C GRCh37
NC_000011.8:g.5211917G>C NCBI36
NG_000007.3:g.63505C>G
NG_063112.2:g.14547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.195C>G ENSP00000494708.1:p.Gly65=
ENST00000650601.1:c.195C>G MANE Select ENSP00000497529.1:p.Gly65=
ENST00000292901.7:c.195C>G ENSP00000292901.3:p.Gly65=
ENST00000380299.3:c.195C>G ENSP00000369654.3:p.Gly65=
ENST00000417377.1:c.92+231C>G ENSP00000414741.1:n.92+231C>G
ENST00000429817.1:c.195C>G ENSP00000393810.1:p.Gly65=
NM_000519.3:c.195C>G NP_000510.1:p.Gly65=
NM_000519.4:c.195C>G MANE Select NP_000510.1:p.Gly65=