Canonical Allele Identifier: CA2843411170

Gene: HBD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233893A>G , CM000673.2:g.5233893A>G	GRCh38
NC_000011.9:g.5255123A>G , CM000673.1:g.5255123A>G	GRCh37
NC_000011.8:g.5211699A>G	NCBI36
NG_000007.3:g.63723T>C
NG_063112.2:g.14765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+98T>C	ENSP00000494708.1:n.315+98T>C
ENST00000650601.1:c.315+98T>C MANE Select	ENSP00000497529.1:n.315+98T>C
ENST00000292901.7:c.315+98T>C	ENSP00000292901.3:n.315+98T>C
ENST00000380299.3:c.315+98T>C	ENSP00000369654.3:n.315+98T>C
ENST00000417377.1:c.92+449T>C	ENSP00000414741.1:n.92+449T>C
NM_000519.3:c.315+98T>C	NP_000510.1:n.315+98T>C
NM_000519.4:c.315+98T>C MANE Select	NP_000510.1:n.315+98T>C