Canonical Allele Identifier: CA2579829477
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227024T>A , CM000673.2:g.5227024T>A GRCh38
NC_000011.9:g.5248254T>A , CM000673.1:g.5248254T>A GRCh37
NC_000011.8:g.5204830T>A NCBI36
NG_000007.3:g.70592A>T
NG_059281.1:g.5048A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-3A>T ENSP00000494175.1:n.-3A>T
ENST00000335295.4:c.-3A>T MANE Select ENSP00000333994.3:n.-3A>T
ENST00000380315.2:c.-3A>T ENSP00000369671.2:n.-3A>T
ENST00000485743.1:n.49A>T
ENST00000633227.1:c.-3A>T ENSP00000488004.1:n.-3A>T
NM_000518.4:c.-3A>T NP_000509.1:n.-3A>T
NM_000518.5:c.-3A>T MANE Select NP_000509.1:n.-3A>T
Search 100 bp 5'
Search 100 bp 3'