Canonical Allele Identifier: CA125112

Gene: HBB

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226586C>G , CM000673.2:g.5226586C>G	GRCh38
NC_000011.9:g.5247816C>G , CM000673.1:g.5247816C>G	GRCh37
NC_000011.8:g.5204392C>G	NCBI36
NG_000007.3:g.71030G>C
NG_059281.1:g.5486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.306G>C	ENSP00000494175.1:p.Glu102Asp
ENST00000335295.4:c.306G>C MANE Select	ENSP00000333994.3:p.Glu102Asp
ENST00000475226.1:n.238G>C
ENST00000485743.1:n.357G>C
ENST00000633227.1:c.*122G>C	ENSP00000488004.1:n.*122G>C
NM_000518.4:c.306G>C	NP_000509.1:p.Glu102Asp
NM_000518.5:c.306G>C MANE Select	NP_000509.1:p.Glu102Asp