Canonical Allele Identifier: CA124912

Gene: HBB

Linked Data

• ClinVar Variation Id: 15201
• ClinVar RCV Id: RCV000016384 ; RCV000759797 ; RCV001507092
• dbSNP Id: rs33925391
• gnomAD v4: 11-5225662-A-T
• MyVariant Identifiers: chr11:g.5246892A>T (hg19) ; chr11:g.5225662A>T (hg38)
• PubMed: PMID:750554 ; PMID:3923770 ; PMID:5634912 ; PMID:7204097

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225662A>T , CM000673.2:g.5225662A>T	GRCh38
NC_000011.9:g.5246892A>T , CM000673.1:g.5246892A>T	GRCh37
NC_000011.8:g.5203468A>T	NCBI36
NG_000007.3:g.71954T>A
NG_059281.1:g.6410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.380T>A	ENSP00000494175.1:p.Val127Glu
ENST00000335295.4:c.380T>A MANE Select	ENSP00000333994.3:p.Val127Glu
ENST00000475226.1:n.312T>A
ENST00000633227.1:c.*196T>A	ENSP00000488004.1:n.*196T>A
NM_000518.4:c.380T>A	NP_000509.1:p.Val127Glu
NM_000518.5:c.380T>A MANE Select	NP_000509.1:p.Val127Glu