Canonical Allele Identifier: CA5839676
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs751286983
ExAC: 11:5246778 T / C
gnomAD v2: 11-5246778-T-C
gnomAD v4: 11-5225548-T-C
MyVariant Identifiers: chr11:g.5246778T>C (hg19) chr11:g.5225548T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225548T>C , CM000673.2:g.5225548T>C GRCh38
NC_000011.9:g.5246778T>C , CM000673.1:g.5246778T>C GRCh37
NC_000011.8:g.5203354T>C NCBI36
NG_000007.3:g.72068A>G
NG_059281.1:g.6524A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*50A>G ENSP00000494175.1:n.*50A>G
ENST00000335295.4:c.*50A>G MANE Select ENSP00000333994.3:n.*50A>G
ENST00000633227.1:c.*310A>G ENSP00000488004.1:n.*310A>G
NM_000518.4:c.*50A>G NP_000509.1:n.*50A>G
NM_000518.5:c.*50A>G MANE Select NP_000509.1:n.*50A>G
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