Canonical Allele Identifier: CA2579829199

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227022G>C , CM000673.2:g.5227022G>C	GRCh38
NC_000011.9:g.5248252G>C , CM000673.1:g.5248252G>C	GRCh37
NC_000011.8:g.5204828G>C	NCBI36
NG_000007.3:g.70594C>G
NG_059281.1:g.5050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-1C>G	ENSP00000494175.1:n.-1C>G
ENST00000335295.4:c.-1C>G MANE Select	ENSP00000333994.3:n.-1C>G
ENST00000380315.2:c.-1C>G	ENSP00000369671.2:n.-1C>G
ENST00000485743.1:n.51C>G
ENST00000633227.1:c.-1C>G	ENSP00000488004.1:n.-1C>G
NM_000518.4:c.-1C>G	NP_000509.1:n.-1C>G
NM_000518.5:c.-1C>G MANE Select	NP_000509.1:n.-1C>G