Canonical Allele Identifier: CA217135278

Gene: HBE1 HBG2 OR51B5

Linked Data

• dbSNP Id: rs1022186943
• gnomAD v3: 11-5448470-G-T
• gnomAD v4: 11-5448470-G-T
• MyVariant Identifiers: chr11:g.5469700G>T (hg19) ; chr11:g.5448470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448470G>T , CM000673.2:g.5448470G>T	GRCh38
NC_000011.9:g.5469700G>T , CM000673.1:g.5469700G>T	GRCh37
NC_000011.8:g.5426276G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.-267+57099C>A (HBE1)	ENSP00000292896.2:n.-267+57099C>A
ENST00000380252.6:c.-74+56881C>A (HBG2)	ENSP00000369602.2:n.-74+56881C>A
ENST00000380259.7:c.983-102571C>A	ENSP00000369609.3:n.983-102571C>A
ENST00000415970.6:n.84+57099C>A (OR51B5)
ENST00000418729.1:n.84+57099C>A (OR51B5)
ENST00000420465.6:n.45+57099C>A (OR51B5)
ENST00000420726.6:n.45+57099C>A (OR51B5)
ENST00000380237.5:c.-310+57099C>A (HBE1)	ENSP00000369586.1:n.-310+57099C>A
ENST00000380252.5:c.62+56881C>A (HBG2)	ENSP00000369602.1:n.62+56881C>A
ENST00000380259.6:c.-564-102571C>A (HBG2)	ENSP00000369609.2:n.-564-102571C>A
ENST00000396895.1:c.-267+57099C>A (HBE1)	ENSP00000380104.1:n.-267+57099C>A
NM_001005567.2:c.-360+57099C>A (OR51B5)	NP_001005567.2:n.-360+57099C>A
NR_038321.1:n.84+57099C>A (OR51B5)
XM_011520010.1:c.-360+2524C>A (OR51B5)	XP_011518312.1:n.-360+2524C>A
NM_001005567.3:c.-360+57099C>A (OR51B5)	NP_001005567.2:n.-360+57099C>A
NR_038321.2:n.84+57099C>A (OR51B5)