Canonical Allele Identifier: CA379277064

Gene: HBD

Linked Data

• MyVariant Identifiers: chr11:g.5255397C>G (hg19) ; chr11:g.5234167C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234167C>G , CM000673.2:g.5234167C>G	GRCh38
NC_000011.9:g.5255397C>G , CM000673.1:g.5255397C>G	GRCh37
NC_000011.8:g.5211973C>G	NCBI36
NG_000007.3:g.63449G>C
NG_063112.2:g.14491G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.139G>C	ENSP00000494708.1:p.Gly47Arg
ENST00000650601.1:c.139G>C MANE Select	ENSP00000497529.1:p.Gly47Arg
ENST00000292901.7:c.139G>C	ENSP00000292901.3:p.Gly47Arg
ENST00000380299.3:c.139G>C	ENSP00000369654.3:p.Gly47Arg
ENST00000417377.1:c.92+175G>C	ENSP00000414741.1:n.92+175G>C
ENST00000429817.1:c.139G>C	ENSP00000393810.1:p.Gly47Arg
NM_000519.3:c.139G>C	NP_000510.1:p.Gly47Arg
NM_000519.4:c.139G>C MANE Select	NP_000510.1:p.Gly47Arg