Canonical Allele Identifier: CA379276736

Gene: HBD

Linked Data

• MyVariant Identifiers: chr11:g.5255234G>C (hg19) ; chr11:g.5234004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234004G>C , CM000673.2:g.5234004G>C	GRCh38
NC_000011.9:g.5255234G>C , CM000673.1:g.5255234G>C	GRCh37
NC_000011.8:g.5211810G>C	NCBI36
NG_000007.3:g.63612C>G
NG_063112.2:g.14654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.302C>G	ENSP00000494708.1:p.Pro101Arg
ENST00000650601.1:c.302C>G MANE Select	ENSP00000497529.1:p.Pro101Arg
ENST00000292901.7:c.302C>G	ENSP00000292901.3:p.Pro101Arg
ENST00000380299.3:c.302C>G	ENSP00000369654.3:p.Pro101Arg
ENST00000417377.1:c.92+338C>G	ENSP00000414741.1:n.92+338C>G
ENST00000429817.1:c.302C>G	ENSP00000393810.1:p.Pro101Arg
NM_000519.3:c.302C>G	NP_000510.1:p.Pro101Arg
NM_000519.4:c.302C>G MANE Select	NP_000510.1:p.Pro101Arg