Canonical Allele Identifier: CA125011

Gene: HBB

Linked Data

• ClinVar Variation Id: 15256
• ClinVar RCV Id: RCV000016466 ; RCV000641524 ; RCV000988480 ; RCV001266995
• dbSNP Id: rs33922873
• MyVariant Identifiers: chr11:g.5247932G>A (hg19) ; chr11:g.5226702G>A (hg38)
• PubMed: PMID:1163074 ; PMID:4413625 ; PMID:5851873 ; PMID:5856115 ; PMID:5996551 ; PMID:6248489 ; PMID:7663000 ; PMID:13509426 ; PMID:13634986 ; PMID:13897827 ; PMID:13911805 ; PMID:14343445 ; PMID:14452533 ; PMID:18105244 ; PMID:20324533

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226702G>A , CM000673.2:g.5226702G>A	GRCh38
NC_000011.9:g.5247932G>A , CM000673.1:g.5247932G>A	GRCh37
NC_000011.8:g.5204508G>A	NCBI36
NG_000007.3:g.70914C>T
NG_059281.1:g.5370C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.190C>T	ENSP00000494175.1:p.His64Tyr
ENST00000335295.4:c.190C>T MANE Select	ENSP00000333994.3:p.His64Tyr
ENST00000380315.2:c.190C>T	ENSP00000369671.2:p.His64Tyr
ENST00000475226.1:n.122C>T
ENST00000485743.1:n.241C>T
ENST00000633227.1:c.*6C>T	ENSP00000488004.1:n.*6C>T
NM_000518.4:c.190C>T	NP_000509.1:p.His64Tyr
NM_000518.5:c.190C>T MANE Select	NP_000509.1:p.His64Tyr