Canonical Allele Identifier: CA2573147124

Gene: HBB

Linked Data

• ClinVar Variation Id: 1559725
• ClinVar RCV Id: RCV002195145
• dbSNP Id: rs2133586933

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226092T>C , CM000673.2:g.5226092T>C	GRCh38
NC_000011.9:g.5247322T>C , CM000673.1:g.5247322T>C	GRCh37
NC_000011.8:g.5203898T>C	NCBI36
NG_000007.3:g.71524A>G
NG_059281.1:g.5980A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.316-366A>G	ENSP00000494175.1:n.316-366A>G
ENST00000335295.4:c.316-366A>G MANE Select	ENSP00000333994.3:n.316-366A>G
ENST00000475226.1:n.248-366A>G
ENST00000633227.1:c.*132-366A>G	ENSP00000488004.1:n.*132-366A>G
NM_000518.4:c.316-366A>G	NP_000509.1:n.316-366A>G
NM_000518.5:c.316-366A>G MANE Select	NP_000509.1:n.316-366A>G