Canonical Allele Identifier: CA217112337
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs35594230
gnomAD v4: 11-5225626-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225626G>A , CM000673.2:g.5225626G>A GRCh38
NC_000011.9:g.5246856G>A , CM000673.1:g.5246856G>A GRCh37
NC_000011.8:g.5203432G>A NCBI36
NG_000007.3:g.71990C>T
NG_059281.1:g.6446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.416C>T ENSP00000494175.1:p.Ala139Val
ENST00000335295.4:c.416C>T MANE Select ENSP00000333994.3:p.Ala139Val
ENST00000633227.1:c.*232C>T ENSP00000488004.1:n.*232C>T
NM_000518.4:c.416C>T NP_000509.1:p.Ala139Val
NM_000518.5:c.416C>T MANE Select NP_000509.1:p.Ala139Val