Canonical Allele Identifier: CA472885775
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226760-C-T
MyVariant Identifiers: chr11:g.5247990C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226760C>T , CM000673.2:g.5226760C>T GRCh38
NC_000011.9:g.5247990C>T , CM000673.1:g.5247990C>T GRCh37
NC_000011.8:g.5204566C>T NCBI36
NG_000007.3:g.70856G>A
NG_059281.1:g.5312G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.132G>A ENSP00000494175.1:p.Glu44=
ENST00000335295.4:c.132G>A MANE Select ENSP00000333994.3:p.Glu44=
ENST00000380315.2:c.132G>A ENSP00000369671.2:p.Glu44=
ENST00000475226.1:n.64G>A
ENST00000485743.1:n.183G>A
ENST00000633227.1:c.116G>A ENSP00000488004.1:p.Ser39Asn
NM_000518.4:c.132G>A NP_000509.1:p.Glu44=
NM_000518.5:c.132G>A MANE Select NP_000509.1:p.Glu44=
Search 100 bp 5'
Search 100 bp 3'