Canonical Allele Identifier: CA5839817
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs766266418
ExAC: 11:5248212 C / A
gnomAD v2: 11-5248212-C-A
gnomAD v4: 11-5226982-C-A
COSMIC: COSM1475507
MyVariant Identifiers: chr11:g.5248212C>A (hg19) chr11:g.5226982C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226982C>A , CM000673.2:g.5226982C>A GRCh38
NC_000011.9:g.5248212C>A , CM000673.1:g.5248212C>A GRCh37
NC_000011.8:g.5204788C>A NCBI36
NG_000007.3:g.70634G>T
NG_059281.1:g.5090G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.40G>T ENSP00000494175.1:p.Ala14Ser
ENST00000335295.4:c.40G>T MANE Select ENSP00000333994.3:p.Ala14Ser
ENST00000380315.2:c.40G>T ENSP00000369671.2:p.Ala14Ser
ENST00000485743.1:n.91G>T
ENST00000633227.1:c.40G>T ENSP00000488004.1:p.Ala14Ser
NM_000518.4:c.40G>T NP_000509.1:p.Ala14Ser
NM_000518.5:c.40G>T MANE Select NP_000509.1:p.Ala14Ser
Search 100 bp 5'
Search 100 bp 3'