Canonical Allele Identifier: CA379273654

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5246851C>G (hg19) ; chr11:g.5225621C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225621C>G , CM000673.2:g.5225621C>G	GRCh38
NC_000011.9:g.5246851C>G , CM000673.1:g.5246851C>G	GRCh37
NC_000011.8:g.5203427C>G	NCBI36
NG_000007.3:g.71995G>C
NG_059281.1:g.6451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.421G>C	ENSP00000494175.1:p.Ala141Pro
ENST00000335295.4:c.421G>C MANE Select	ENSP00000333994.3:p.Ala141Pro
ENST00000633227.1:c.*237G>C	ENSP00000488004.1:n.*237G>C
NM_000518.4:c.421G>C	NP_000509.1:p.Ala141Pro
NM_000518.5:c.421G>C MANE Select	NP_000509.1:p.Ala141Pro