Canonical Allele Identifier: CA217113815
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34240746
MyVariant Identifiers: chr11:g.5247880T>C (hg19) chr11:g.5226650T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226650T>C , CM000673.2:g.5226650T>C GRCh38
NC_000011.9:g.5247880T>C , CM000673.1:g.5247880T>C GRCh37
NC_000011.8:g.5204456T>C NCBI36
NG_000007.3:g.70966A>G
NG_059281.1:g.5422A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.242A>G ENSP00000494175.1:p.Asn81Ser
ENST00000335295.4:c.242A>G MANE Select ENSP00000333994.3:p.Asn81Ser
ENST00000380315.2:c.242A>G ENSP00000369671.2:p.Asn81Ser
ENST00000475226.1:n.174A>G
ENST00000485743.1:n.293A>G
ENST00000633227.1:c.*58A>G ENSP00000488004.1:n.*58A>G
NM_000518.4:c.242A>G NP_000509.1:p.Asn81Ser
NM_000518.5:c.242A>G MANE Select NP_000509.1:p.Asn81Ser
Search 100 bp 5'
Search 100 bp 3'