Canonical Allele Identifier: CA125511
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5226698C>G
GRCh37 chr11:g.5247928C>G
Revel Score:
ENST00000335295 (MANE Select) 0.903
ENST00000380315 0.903
ClinVar RCV:
RCV000016866
RCV001811166
ClinVar Variation:
15599
dbSNP:
33922018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226698C>G , CM000673.2:g.5226698C>G GRCh38
NC_000011.9:g.5247928C>G , CM000673.1:g.5247928C>G GRCh37
NC_000011.8:g.5204504C>G NCBI36
NG_000007.3:g.70918G>C
NG_059281.1:g.5374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.194G>C ENSP00000494175.1:p.Gly65Ala
ENST00000335295.4:c.194G>C MANE Select ENSP00000333994.3:p.Gly65Ala
ENST00000380315.2:c.194G>C ENSP00000369671.2:p.Gly65Ala
ENST00000475226.1:n.126G>C
ENST00000485743.1:n.245G>C
ENST00000633227.1:c.*10G>C ENSP00000488004.1:n.*10G>C
NM_000518.4:c.194G>C NP_000509.1:p.Gly65Ala
NM_000518.5:c.194G>C MANE Select NP_000509.1:p.Gly65Ala
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