Canonical Allele Identifier: CA2612162290
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226917-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226917C>G , CM000673.2:g.5226917C>G GRCh38
NC_000011.9:g.5248147C>G , CM000673.1:g.5248147C>G GRCh37
NC_000011.8:g.5204723C>G NCBI36
NG_000007.3:g.70699G>C
NG_059281.1:g.5155G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+13G>C ENSP00000494175.1:n.92+13G>C
ENST00000335295.4:c.92+13G>C MANE Select ENSP00000333994.3:n.92+13G>C
ENST00000380315.2:c.92+13G>C ENSP00000369671.2:n.92+13G>C
ENST00000485743.1:n.143+13G>C
ENST00000633227.1:c.76+29G>C ENSP00000488004.1:n.76+29G>C
NM_000518.4:c.92+13G>C NP_000509.1:n.92+13G>C
NM_000518.5:c.92+13G>C MANE Select NP_000509.1:n.92+13G>C
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