Canonical Allele Identifier: CA2612162233
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226529-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226529C>T , CM000673.2:g.5226529C>T GRCh38
NC_000011.9:g.5247759C>T , CM000673.1:g.5247759C>T GRCh37
NC_000011.8:g.5204335C>T NCBI36
NG_000007.3:g.71087G>A
NG_059281.1:g.5543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+48G>A ENSP00000494175.1:n.315+48G>A
ENST00000335295.4:c.315+48G>A MANE Select ENSP00000333994.3:n.315+48G>A
ENST00000475226.1:n.247+48G>A
ENST00000485743.1:n.414G>A
ENST00000633227.1:c.*131+48G>A ENSP00000488004.1:n.*131+48G>A
NM_000518.4:c.315+48G>A NP_000509.1:n.315+48G>A
NM_000518.5:c.315+48G>A MANE Select NP_000509.1:n.315+48G>A
Search 100 bp 5'
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