Canonical Allele Identifier: CA379273699
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225666-G-T
COSMIC: COSM6069168
MyVariant Identifiers: chr11:g.5246896G>T (hg19) chr11:g.5225666G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225666G>T , CM000673.2:g.5225666G>T GRCh38
NC_000011.9:g.5246896G>T , CM000673.1:g.5246896G>T GRCh37
NC_000011.8:g.5203472G>T NCBI36
NG_000007.3:g.71950C>A
NG_059281.1:g.6406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.376C>A ENSP00000494175.1:p.Pro126Thr
ENST00000335295.4:c.376C>A MANE Select ENSP00000333994.3:p.Pro126Thr
ENST00000475226.1:n.308C>A
ENST00000633227.1:c.*192C>A ENSP00000488004.1:n.*192C>A
NM_000518.4:c.376C>A NP_000509.1:p.Pro126Thr
NM_000518.5:c.376C>A MANE Select NP_000509.1:p.Pro126Thr
Search 100 bp 5'
Search 100 bp 3'