Canonical Allele Identifier: CA2579829134
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227022-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227022G>A , CM000673.2:g.5227022G>A GRCh38
NC_000011.9:g.5248252G>A , CM000673.1:g.5248252G>A GRCh37
NC_000011.8:g.5204828G>A NCBI36
NG_000007.3:g.70594C>T
NG_059281.1:g.5050C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-1C>T ENSP00000494175.1:n.-1C>T
ENST00000335295.4:c.-1C>T MANE Select ENSP00000333994.3:n.-1C>T
ENST00000380315.2:c.-1C>T ENSP00000369671.2:n.-1C>T
ENST00000485743.1:n.51C>T
ENST00000633227.1:c.-1C>T ENSP00000488004.1:n.-1C>T
NM_000518.4:c.-1C>T NP_000509.1:n.-1C>T
NM_000518.5:c.-1C>T MANE Select NP_000509.1:n.-1C>T
Search 100 bp 5'
Search 100 bp 3'