Canonical Allele Identifier: CA379276744

Gene: HBD

Linked Data

• MyVariant Identifiers: chr11:g.5255237T>G (hg19) ; chr11:g.5234007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234007T>G , CM000673.2:g.5234007T>G	GRCh38
NC_000011.9:g.5255237T>G , CM000673.1:g.5255237T>G	GRCh37
NC_000011.8:g.5211813T>G	NCBI36
NG_000007.3:g.63609A>C
NG_063112.2:g.14651A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.299A>C	ENSP00000494708.1:p.Asp100Ala
ENST00000650601.1:c.299A>C MANE Select	ENSP00000497529.1:p.Asp100Ala
ENST00000292901.7:c.299A>C	ENSP00000292901.3:p.Asp100Ala
ENST00000380299.3:c.299A>C	ENSP00000369654.3:p.Asp100Ala
ENST00000417377.1:c.92+335A>C	ENSP00000414741.1:n.92+335A>C
ENST00000429817.1:c.299A>C	ENSP00000393810.1:p.Asp100Ala
NM_000519.3:c.299A>C	NP_000510.1:p.Asp100Ala
NM_000519.4:c.299A>C MANE Select	NP_000510.1:p.Asp100Ala