Canonical Allele Identifier: CA124861
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5227002T>G
GRCh37 chr11:g.5248232T>G
Revel Score:
ENST00000335295 (MANE Select) 0.504
ENST00000380315 0.504
ClinVar RCV:
RCV000016352
RCV003234907
ClinVar Variation:
15175
dbSNP:
334
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227002T>G , CM000673.2:g.5227002T>G GRCh38
NC_000011.9:g.5248232T>G , CM000673.1:g.5248232T>G GRCh37
NC_000011.8:g.5204808T>G NCBI36
NG_000007.3:g.70614A>C
NG_059281.1:g.5070A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.20A>C ENSP00000494175.1:p.Glu7Ala
ENST00000335295.4:c.20A>C MANE Select ENSP00000333994.3:p.Glu7Ala
ENST00000380315.2:c.20A>C ENSP00000369671.2:p.Glu7Ala
ENST00000485743.1:n.71A>C
ENST00000633227.1:c.20A>C ENSP00000488004.1:p.Glu7Ala
NM_000518.4:c.20A>C NP_000509.1:p.Glu7Ala
NM_000518.5:c.20A>C MANE Select NP_000509.1:p.Glu7Ala
Search 100 bp 5'
Search 100 bp 3'