Canonical Allele Identifier: CA125076

Gene: HBB

Linked Data

• ClinVar Variation Id: 15295
• ClinVar RCV Id: RCV000016528
• dbSNP Id: rs33952850
• MyVariant Identifiers: chr11:g.5247976A>C (hg19) ; chr11:g.5226746A>C (hg38)
• PubMed: PMID:4748512

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226746A>C , CM000673.2:g.5226746A>C	GRCh38
NC_000011.9:g.5247976A>C , CM000673.1:g.5247976A>C	GRCh37
NC_000011.8:g.5204552A>C	NCBI36
NG_000007.3:g.70870T>G
NG_059281.1:g.5326T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.146T>G	ENSP00000494175.1:p.Leu49Arg
ENST00000335295.4:c.146T>G MANE Select	ENSP00000333994.3:p.Leu49Arg
ENST00000380315.2:c.146T>G	ENSP00000369671.2:p.Leu49Arg
ENST00000475226.1:n.78T>G
ENST00000485743.1:n.197T>G
ENST00000633227.1:c.130T>G	ENSP00000488004.1:p.Cys44Gly
NM_000518.4:c.146T>G	NP_000509.1:p.Leu49Arg
NM_000518.5:c.146T>G MANE Select	NP_000509.1:p.Leu49Arg