Canonical Allele Identifier: CA379274522
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247993A>C (hg19) chr11:g.5226763A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226763A>C , CM000673.2:g.5226763A>C GRCh38
NC_000011.9:g.5247993A>C , CM000673.1:g.5247993A>C GRCh37
NC_000011.8:g.5204569A>C NCBI36
NG_000007.3:g.70853T>G
NG_059281.1:g.5309T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.129T>G ENSP00000494175.1:p.Phe43Leu
ENST00000335295.4:c.129T>G MANE Select ENSP00000333994.3:p.Phe43Leu
ENST00000380315.2:c.129T>G ENSP00000369671.2:p.Phe43Leu
ENST00000475226.1:n.61T>G
ENST00000485743.1:n.180T>G
ENST00000633227.1:c.113T>G ENSP00000488004.1:p.Leu38Trp
NM_000518.4:c.129T>G NP_000509.1:p.Phe43Leu
NM_000518.5:c.129T>G MANE Select NP_000509.1:p.Phe43Leu
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