Canonical Allele Identifier: CA1949570014

Gene: HBB

Linked Data

• dbSNP Id: rs1589893221
• gnomAD v4: 11-5226900-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226900T>C , CM000673.2:g.5226900T>C	GRCh38
NC_000011.9:g.5248130T>C , CM000673.1:g.5248130T>C	GRCh37
NC_000011.8:g.5204706T>C	NCBI36
NG_000007.3:g.70716A>G
NG_059281.1:g.5172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92+30A>G	ENSP00000494175.1:n.92+30A>G
ENST00000335295.4:c.92+30A>G MANE Select	ENSP00000333994.3:n.92+30A>G
ENST00000380315.2:c.92+30A>G	ENSP00000369671.2:n.92+30A>G
ENST00000485743.1:n.143+30A>G
ENST00000633227.1:c.76+46A>G	ENSP00000488004.1:n.76+46A>G
NM_000518.4:c.92+30A>G	NP_000509.1:n.92+30A>G
NM_000518.5:c.92+30A>G MANE Select	NP_000509.1:n.92+30A>G