Canonical Allele Identifier: CA678230068

Gene: HBE1 HBG2 OR51B5

Linked Data

• dbSNP Id: rs528352762
• gnomAD v3: 11-5448358-C-A
• gnomAD v4: 11-5448358-C-A
• MyVariant Identifiers: chr11:g.5469588C>A (hg19) ; chr11:g.5448358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448358C>A , CM000673.2:g.5448358C>A	GRCh38
NC_000011.9:g.5469588C>A , CM000673.1:g.5469588C>A	GRCh37
NC_000011.8:g.5426164C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.-267+57211G>T (HBE1)	ENSP00000292896.2:n.-267+57211G>T
ENST00000380252.6:c.-74+56993G>T (HBG2)	ENSP00000369602.2:n.-74+56993G>T
ENST00000380259.7:c.983-102459G>T	ENSP00000369609.3:n.983-102459G>T
ENST00000415970.6:n.84+57211G>T (OR51B5)
ENST00000418729.1:n.84+57211G>T (OR51B5)
ENST00000420465.6:n.45+57211G>T (OR51B5)
ENST00000420726.6:n.45+57211G>T (OR51B5)
ENST00000380237.5:c.-310+57211G>T (HBE1)	ENSP00000369586.1:n.-310+57211G>T
ENST00000380252.5:c.62+56993G>T (HBG2)	ENSP00000369602.1:n.62+56993G>T
ENST00000380259.6:c.-564-102459G>T (HBG2)	ENSP00000369609.2:n.-564-102459G>T
ENST00000396895.1:c.-267+57211G>T (HBE1)	ENSP00000380104.1:n.-267+57211G>T
NM_001005567.2:c.-360+57211G>T (OR51B5)	NP_001005567.2:n.-360+57211G>T
NR_038321.1:n.84+57211G>T (OR51B5)
XM_011520010.1:c.-360+2636G>T (OR51B5)	XP_011518312.1:n.-360+2636G>T
NM_001005567.3:c.-360+57211G>T (OR51B5)	NP_001005567.2:n.-360+57211G>T
NR_038321.2:n.84+57211G>T (OR51B5)