Canonical Allele Identifier: CA677551541
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1264983767
gnomAD v3: 11-5225500-C-A
gnomAD v4: 11-5225500-C-A
MyVariant Identifiers: chr11:g.5246730C>A (hg19) chr11:g.5225500C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225500C>A , CM000673.2:g.5225500C>A GRCh38
NC_000011.9:g.5246730C>A , CM000673.1:g.5246730C>A GRCh37
NC_000011.8:g.5203306C>A NCBI36
NG_000007.3:g.72116G>T
NG_059281.1:g.6572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*98G>T ENSP00000494175.1:n.*98G>T
ENST00000335295.4:c.*98G>T MANE Select ENSP00000333994.3:n.*98G>T
ENST00000633227.1:c.*358G>T ENSP00000488004.1:n.*358G>T
NM_000518.4:c.*98G>T NP_000509.1:n.*98G>T
NM_000518.5:c.*98G>T MANE Select NP_000509.1:n.*98G>T
Search 100 bp 5'
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