Canonical Allele Identifier: CA125383

Gene: HBB

Linked Data

• ClinVar Variation Id: 15519
• ClinVar RCV Id: RCV000016783 ; RCV000506641 ; RCV000508308 ; RCV001078376 ; RCV002222353
• dbSNP Id: rs33930702
• MyVariant Identifiers: chr11:g.5248249C>T (hg19) ; chr11:g.5227019C>T (hg38)
• PubMed: PMID:1301952 ; PMID:7864023 ; PMID:8330972 ; PMID:9371531 ; PMID:19429541

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227019C>T , CM000673.2:g.5227019C>T	GRCh38
NC_000011.9:g.5248249C>T , CM000673.1:g.5248249C>T	GRCh37
NC_000011.8:g.5204825C>T	NCBI36
NG_000007.3:g.70597G>A
NG_059281.1:g.5053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.3G>A	ENSP00000494175.1:p.Met1Ile
ENST00000335295.4:c.3G>A MANE Select	ENSP00000333994.3:p.Met1Ile
ENST00000380315.2:c.3G>A	ENSP00000369671.2:p.Met1Ile
ENST00000485743.1:n.54G>A
ENST00000633227.1:c.3G>A	ENSP00000488004.1:p.Met1Ile
NM_000518.4:c.3G>A	NP_000509.1:p.Met1Ile
NM_000518.5:c.3G>A MANE Select	NP_000509.1:p.Met1Ile