Canonical Allele Identifier: CA125160

Gene: HBB

Linked Data

• ClinVar Variation Id: 15349
• ClinVar RCV Id: RCV000016593 ; RCV000016595 ; RCV000016594 ; RCV000759798 ; RCV001001860
• dbSNP Id: rs33910209
• MyVariant Identifiers: chr11:g.5246878G>T (hg19) ; chr11:g.5225648G>T (hg38)
• PubMed: PMID:1002699 ; PMID:1244915 ; PMID:6526653 ; PMID:7390864 ; PMID:8226094

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225648G>T , CM000673.2:g.5225648G>T	GRCh38
NC_000011.9:g.5246878G>T , CM000673.1:g.5246878G>T	GRCh37
NC_000011.8:g.5203454G>T	NCBI36
NG_000007.3:g.71968C>A
NG_059281.1:g.6424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.394C>A	ENSP00000494175.1:p.Gln132Lys
ENST00000335295.4:c.394C>A MANE Select	ENSP00000333994.3:p.Gln132Lys
ENST00000633227.1:c.*210C>A	ENSP00000488004.1:n.*210C>A
NM_000518.4:c.394C>A	NP_000509.1:p.Gln132Lys
NM_000518.5:c.394C>A MANE Select	NP_000509.1:p.Gln132Lys