Canonical Allele Identifier: CA124993
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5225653G>A
GRCh37 chr11:g.5246883G>A
Revel Score:
ENST00000335295 (MANE Select) 0.818
gnomAD v2:
11:5246883 G / A
gnomAD v3:
11:5225653 G / A
gnomAD v4:
chr11-5225653-G-A
Joint Max Group AF 0.00013285 (AFR)
Genomes Max Group AF 0.00013017 (AFR)
Exomes Max Group AF 0.00007713 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225653G>A , CM000673.2:g.5225653G>A GRCh38
NC_000011.9:g.5246883G>A , CM000673.1:g.5246883G>A GRCh37
NC_000011.8:g.5203459G>A NCBI36
NG_000007.3:g.71963C>T
NG_059281.1:g.6419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.389C>T ENSP00000494175.1:p.Ala130Val
ENST00000335295.4:c.389C>T MANE Select ENSP00000333994.3:p.Ala130Val
ENST00000633227.1:c.*205C>T ENSP00000488004.1:n.*205C>T
NM_000518.4:c.389C>T NP_000509.1:p.Ala130Val
NM_000518.5:c.389C>T MANE Select NP_000509.1:p.Ala130Val
Search 100 bp 5'
Search 100 bp 3'