Canonical Allele Identifier: CA472641223

Gene: HBD

Linked Data

• COSMIC: COSM5558441
• MyVariant Identifiers: chr11:g.5254295G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233065G>A , CM000673.2:g.5233065G>A	GRCh38
NC_000011.9:g.5254295G>A , CM000673.1:g.5254295G>A	GRCh37
NC_000011.8:g.5210871G>A	NCBI36
NG_000007.3:g.64551C>T
NG_063112.2:g.15593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.343C>T	ENSP00000494708.1:p.Leu115=
ENST00000650601.1:c.343C>T MANE Select	ENSP00000497529.1:p.Leu115=
ENST00000292901.7:c.316-267C>T	ENSP00000292901.3:n.316-267C>T
ENST00000380299.3:c.343C>T	ENSP00000369654.3:p.Leu115=
ENST00000417377.1:c.120C>T	ENSP00000414741.1:p.Cys40=
NM_000519.3:c.343C>T	NP_000510.1:p.Leu115=
NM_000519.4:c.343C>T MANE Select	NP_000510.1:p.Leu115=