Canonical Allele Identifier: CA934695033

Gene: HBE1 HBG2 OR51B5

Linked Data

• dbSNP Id: rs1850800414
• gnomAD v3: 11-5448366-C-G
• gnomAD v4: 11-5448366-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448366C>G , CM000673.2:g.5448366C>G	GRCh38
NC_000011.9:g.5469596C>G , CM000673.1:g.5469596C>G	GRCh37
NC_000011.8:g.5426172C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.-267+57203G>C (HBE1)	ENSP00000292896.2:n.-267+57203G>C
ENST00000380252.6:c.-74+56985G>C (HBG2)	ENSP00000369602.2:n.-74+56985G>C
ENST00000380259.7:c.983-102467G>C	ENSP00000369609.3:n.983-102467G>C
ENST00000415970.6:n.84+57203G>C (OR51B5)
ENST00000418729.1:n.84+57203G>C (OR51B5)
ENST00000420465.6:n.45+57203G>C (OR51B5)
ENST00000420726.6:n.45+57203G>C (OR51B5)
ENST00000380237.5:c.-310+57203G>C (HBE1)	ENSP00000369586.1:n.-310+57203G>C
ENST00000380252.5:c.62+56985G>C (HBG2)	ENSP00000369602.1:n.62+56985G>C
ENST00000380259.6:c.-564-102467G>C (HBG2)	ENSP00000369609.2:n.-564-102467G>C
ENST00000396895.1:c.-267+57203G>C (HBE1)	ENSP00000380104.1:n.-267+57203G>C
NM_001005567.2:c.-360+57203G>C (OR51B5)	NP_001005567.2:n.-360+57203G>C
NR_038321.1:n.84+57203G>C (OR51B5)
XM_011520010.1:c.-360+2628G>C (OR51B5)	XP_011518312.1:n.-360+2628G>C
NM_001005567.3:c.-360+57203G>C (OR51B5)	NP_001005567.2:n.-360+57203G>C
NR_038321.2:n.84+57203G>C (OR51B5)