Canonical Allele Identifier: CA2612162121

Gene: HBB

Linked Data

• gnomAD v4: 11-5225467-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225467C>A , CM000673.2:g.5225467C>A	GRCh38
NC_000011.9:g.5246697C>A , CM000673.1:g.5246697C>A	GRCh37
NC_000011.8:g.5203273C>A	NCBI36
NG_000007.3:g.72149G>T
NG_059281.1:g.6605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*131G>T	ENSP00000494175.1:n.*131G>T
ENST00000335295.4:c.*131G>T MANE Select	ENSP00000333994.3:n.*131G>T
ENST00000633227.1:c.*391G>T	ENSP00000488004.1:n.*391G>T
NM_000518.4:c.*131G>T	NP_000509.1:n.*131G>T
NM_000518.5:c.*131G>T MANE Select	NP_000509.1:n.*131G>T