Canonical Allele Identifier: CA379276215

Gene: HBD

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232765C>G , CM000673.2:g.5232765C>G	GRCh38
NC_000011.9:g.5253995C>G , CM000673.1:g.5253995C>G	GRCh37
NC_000011.8:g.5210571C>G	NCBI36
NG_000007.3:g.64851G>C
NG_063112.2:g.15893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292901.7:c.349G>C	ENSP00000292901.3:p.Gly117Arg