Canonical Allele Identifier: CA5839697
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs758591462
ExAC: 11:5246896 G / C
gnomAD v2: 11-5246896-G-C
gnomAD v4: 11-5225666-G-C
MyVariant Identifiers: chr11:g.5246896G>C (hg19) chr11:g.5225666G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.376C>G ENSP00000494175.1:p.Pro126Ala
ENST00000335295.4:c.376C>G MANE Select ENSP00000333994.3:p.Pro126Ala
ENST00000475226.1:n.308C>G
ENST00000633227.1:c.*192C>G ENSP00000488004.1:n.*192C>G
NM_000518.4:c.376C>G NP_000509.1:p.Pro126Ala
NM_000518.5:c.376C>G MANE Select NP_000509.1:p.Pro126Ala
Search 100 bp 5'
Search 100 bp 3'