Canonical Allele Identifier: CA379276430

Gene: HBD

Linked Data

• MyVariant Identifiers: chr11:g.5254222G>T (hg19) ; chr11:g.5232992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232992G>T , CM000673.2:g.5232992G>T	GRCh38
NC_000011.9:g.5254222G>T , CM000673.1:g.5254222G>T	GRCh37
NC_000011.8:g.5210798G>T	NCBI36
NG_000007.3:g.64624C>A
NG_063112.2:g.15666C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.416C>A	ENSP00000494708.1:p.Ala139Asp
ENST00000650601.1:c.416C>A MANE Select	ENSP00000497529.1:p.Ala139Asp
ENST00000292901.7:c.316-194C>A	ENSP00000292901.3:n.316-194C>A
ENST00000380299.3:c.416C>A	ENSP00000369654.3:p.Ala139Asp
ENST00000417377.1:c.193C>A	ENSP00000414741.1:p.Leu65Ile
NM_000519.3:c.416C>A	NP_000510.1:p.Ala139Asp
NM_000519.4:c.416C>A MANE Select	NP_000510.1:p.Ala139Asp