Canonical Allele Identifier: CA915940694

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225836G>A , CM000673.2:g.5225836G>A	GRCh38
NC_000011.9:g.5247066G>A , CM000673.1:g.5247066G>A	GRCh37
NC_000011.8:g.5203642G>A	NCBI36
NG_000007.3:g.71780C>T
NG_059281.1:g.6236C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.316-110C>T	ENSP00000494175.1:n.316-110C>T
ENST00000335295.4:c.316-110C>T MANE Select	ENSP00000333994.3:n.316-110C>T
ENST00000475226.1:n.248-110C>T
ENST00000633227.1:c.*132-110C>T	ENSP00000488004.1:n.*132-110C>T
NM_000518.4:c.316-110C>T	NP_000509.1:n.316-110C>T
NM_000518.5:c.316-110C>T MANE Select	NP_000509.1:n.316-110C>T