Canonical Allele Identifier: CA597217434
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34809925
gnomAD v2: 11-5246822-G-A
gnomAD v3: 11-5225592-G-A
gnomAD v4: 11-5225592-G-A
MyVariant Identifiers: chr11:g.5246822G>A (hg19) chr11:g.5225592G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225592G>A , CM000673.2:g.5225592G>A GRCh38
NC_000011.9:g.5246822G>A , CM000673.1:g.5246822G>A GRCh37
NC_000011.8:g.5203398G>A NCBI36
NG_000007.3:g.72024C>T
NG_059281.1:g.6480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*6C>T ENSP00000494175.1:n.*6C>T
ENST00000335295.4:c.*6C>T MANE Select ENSP00000333994.3:n.*6C>T
ENST00000633227.1:c.*266C>T ENSP00000488004.1:n.*266C>T
NM_000518.4:c.*6C>T NP_000509.1:n.*6C>T
NM_000518.5:c.*6C>T MANE Select NP_000509.1:n.*6C>T
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