Canonical Allele Identifier: CA379273724
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246923G>T (hg19) chr11:g.5225693G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225693G>T , CM000673.2:g.5225693G>T GRCh38
NC_000011.9:g.5246923G>T , CM000673.1:g.5246923G>T GRCh37
NC_000011.8:g.5203499G>T NCBI36
NG_000007.3:g.71923C>A
NG_059281.1:g.6379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.349C>A ENSP00000494175.1:p.His117Asn
ENST00000335295.4:c.349C>A MANE Select ENSP00000333994.3:p.His117Asn
ENST00000475226.1:n.281C>A
ENST00000633227.1:c.*165C>A ENSP00000488004.1:n.*165C>A
NM_000518.4:c.349C>A NP_000509.1:p.His117Asn
NM_000518.5:c.349C>A MANE Select NP_000509.1:p.His117Asn
Search 100 bp 5'
Search 100 bp 3'