Canonical Allele Identifier: CA472885834
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1191121382
gnomAD v2: 11-5248165-C-A
gnomAD v3: 11-5226935-C-A
gnomAD v4: 11-5226935-C-A
MyVariant Identifiers: chr11:g.5248165C>A (hg19) chr11:g.5226935C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226935C>A , CM000673.2:g.5226935C>A GRCh38
NC_000011.9:g.5248165C>A , CM000673.1:g.5248165C>A GRCh37
NC_000011.8:g.5204741C>A NCBI36
NG_000007.3:g.70681G>T
NG_059281.1:g.5137G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.87G>T ENSP00000494175.1:p.Leu29=
ENST00000335295.4:c.87G>T MANE Select ENSP00000333994.3:p.Leu29=
ENST00000380315.2:c.87G>T ENSP00000369671.2:p.Leu29=
ENST00000485743.1:n.138G>T
ENST00000633227.1:c.76+11G>T ENSP00000488004.1:n.76+11G>T
NM_000518.4:c.87G>T NP_000509.1:p.Leu29=
NM_000518.5:c.87G>T MANE Select NP_000509.1:p.Leu29=
Search 100 bp 5'
Search 100 bp 3'