Canonical Allele Identifier: CA379273844
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1444606190
gnomAD v2: 11-5247900-A-C
gnomAD v3: 11-5226670-A-C
gnomAD v4: 11-5226670-A-C
MyVariant Identifiers: chr11:g.5247900A>C (hg19) chr11:g.5226670A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226670A>C , CM000673.2:g.5226670A>C GRCh38
NC_000011.9:g.5247900A>C , CM000673.1:g.5247900A>C GRCh37
NC_000011.8:g.5204476A>C NCBI36
NG_000007.3:g.70946T>G
NG_059281.1:g.5402T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.222T>G ENSP00000494175.1:p.Asp74Glu
ENST00000335295.4:c.222T>G MANE Select ENSP00000333994.3:p.Asp74Glu
ENST00000380315.2:c.222T>G ENSP00000369671.2:p.Asp74Glu
ENST00000475226.1:n.154T>G
ENST00000485743.1:n.273T>G
ENST00000633227.1:c.*38T>G ENSP00000488004.1:n.*38T>G
NM_000518.4:c.222T>G NP_000509.1:p.Asp74Glu
NM_000518.5:c.222T>G MANE Select NP_000509.1:p.Asp74Glu
Search 100 bp 5'
Search 100 bp 3'