Canonical Allele Identifier: CA2612162172
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226479-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226479A>T , CM000673.2:g.5226479A>T GRCh38
NC_000011.9:g.5247709A>T , CM000673.1:g.5247709A>T GRCh37
NC_000011.8:g.5204285A>T NCBI36
NG_000007.3:g.71137T>A
NG_059281.1:g.5593T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+98T>A ENSP00000494175.1:n.315+98T>A
ENST00000335295.4:c.315+98T>A MANE Select ENSP00000333994.3:n.315+98T>A
ENST00000475226.1:n.247+98T>A
ENST00000485743.1:n.464T>A
ENST00000633227.1:c.*131+98T>A ENSP00000488004.1:n.*131+98T>A
NM_000518.4:c.315+98T>A NP_000509.1:n.315+98T>A
NM_000518.5:c.315+98T>A MANE Select NP_000509.1:n.315+98T>A
Search 100 bp 5'
Search 100 bp 3'