Canonical Allele Identifier: CA2612162218
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225540-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225540A>T , CM000673.2:g.5225540A>T GRCh38
NC_000011.9:g.5246770A>T , CM000673.1:g.5246770A>T GRCh37
NC_000011.8:g.5203346A>T NCBI36
NG_000007.3:g.72076T>A
NG_059281.1:g.6532T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*58T>A ENSP00000494175.1:n.*58T>A
ENST00000335295.4:c.*58T>A MANE Select ENSP00000333994.3:n.*58T>A
ENST00000633227.1:c.*318T>A ENSP00000488004.1:n.*318T>A
NM_000518.4:c.*58T>A NP_000509.1:n.*58T>A
NM_000518.5:c.*58T>A MANE Select NP_000509.1:n.*58T>A
Search 100 bp 5'
Search 100 bp 3'