Canonical Allele Identifier: CA125536
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5226951A>G
GRCh37 chr11:g.5248181A>G
Revel Score:
ENST00000335295 (MANE Select) 0.554
ENST00000380315 0.554
ClinVar RCV:
RCV000016885
ClinVar Variation:
15618
dbSNP:
33945546
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226951A>G , CM000673.2:g.5226951A>G GRCh38
NC_000011.9:g.5248181A>G , CM000673.1:g.5248181A>G GRCh37
NC_000011.8:g.5204757A>G NCBI36
NG_000007.3:g.70665T>C
NG_059281.1:g.5121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.71T>C ENSP00000494175.1:p.Val24Ala
ENST00000335295.4:c.71T>C MANE Select ENSP00000333994.3:p.Val24Ala
ENST00000380315.2:c.71T>C ENSP00000369671.2:p.Val24Ala
ENST00000485743.1:n.122T>C
ENST00000633227.1:c.71T>C ENSP00000488004.1:p.Val24Ala
NM_000518.4:c.71T>C NP_000509.1:p.Val24Ala
NM_000518.5:c.71T>C MANE Select NP_000509.1:p.Val24Ala
Search 100 bp 5'
Search 100 bp 3'