Canonical Allele Identifier: CA217115240
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs281864513
gnomAD v4: 11-5226953-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226953T>A , CM000673.2:g.5226953T>A GRCh38
NC_000011.9:g.5248183T>A , CM000673.1:g.5248183T>A GRCh37
NC_000011.8:g.5204759T>A NCBI36
NG_000007.3:g.70663A>T
NG_059281.1:g.5119A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.69A>T ENSP00000494175.1:p.Glu23Asp
ENST00000335295.4:c.69A>T MANE Select ENSP00000333994.3:p.Glu23Asp
ENST00000380315.2:c.69A>T ENSP00000369671.2:p.Glu23Asp
ENST00000485743.1:n.120A>T
ENST00000633227.1:c.69A>T ENSP00000488004.1:p.Glu23Asp
NM_000518.4:c.69A>T NP_000509.1:p.Glu23Asp
NM_000518.5:c.69A>T MANE Select NP_000509.1:p.Glu23Asp