Canonical Allele Identifier: CA5839686
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs772342393
ExAC: 11:5246827 C / T
gnomAD v2: 11-5246827-C-T
gnomAD v4: 11-5225597-C-T
MyVariant Identifiers: chr11:g.5246827C>T (hg19) chr11:g.5225597C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225597C>T , CM000673.2:g.5225597C>T GRCh38
NC_000011.9:g.5246827C>T , CM000673.1:g.5246827C>T GRCh37
NC_000011.8:g.5203403C>T NCBI36
NG_000007.3:g.72019G>A
NG_059281.1:g.6475G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*1G>A ENSP00000494175.1:n.*1G>A
ENST00000335295.4:c.*1G>A MANE Select ENSP00000333994.3:n.*1G>A
ENST00000633227.1:c.*261G>A ENSP00000488004.1:n.*261G>A
NM_000518.4:c.*1G>A NP_000509.1:n.*1G>A
NM_000518.5:c.*1G>A MANE Select NP_000509.1:n.*1G>A
Search 100 bp 5'
Search 100 bp 3'