Canonical Allele Identifier: CA678229985

Gene: HBE1 HBG2 OR51B5

Linked Data

• dbSNP Id: rs1307671392
• gnomAD v3: 11-5448262-T-C
• gnomAD v4: 11-5448262-T-C
• MyVariant Identifiers: chr11:g.5469492T>C (hg19) ; chr11:g.5448262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448262T>C , CM000673.2:g.5448262T>C	GRCh38
NC_000011.9:g.5469492T>C , CM000673.1:g.5469492T>C	GRCh37
NC_000011.8:g.5426068T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000292896.3:c.-267+57307A>G (HBE1)	ENSP00000292896.2:n.-267+57307A>G
ENST00000380252.6:c.-74+57089A>G (HBG2)	ENSP00000369602.2:n.-74+57089A>G
ENST00000380259.7:c.983-102363A>G	ENSP00000369609.3:n.983-102363A>G
ENST00000415970.6:n.84+57307A>G (OR51B5)
ENST00000418729.1:n.84+57307A>G (OR51B5)
ENST00000420465.6:n.45+57307A>G (OR51B5)
ENST00000420726.6:n.45+57307A>G (OR51B5)
ENST00000380237.5:c.-310+57307A>G (HBE1)	ENSP00000369586.1:n.-310+57307A>G
ENST00000380252.5:c.62+57089A>G (HBG2)	ENSP00000369602.1:n.62+57089A>G
ENST00000380259.6:c.-564-102363A>G (HBG2)	ENSP00000369609.2:n.-564-102363A>G
ENST00000396895.1:c.-267+57307A>G (HBE1)	ENSP00000380104.1:n.-267+57307A>G
NM_001005567.2:c.-360+57307A>G (OR51B5)	NP_001005567.2:n.-360+57307A>G
NR_038321.1:n.84+57307A>G (OR51B5)
XM_011520010.1:c.-360+2732A>G (OR51B5)	XP_011518312.1:n.-360+2732A>G
NM_001005567.3:c.-360+57307A>G (OR51B5)	NP_001005567.2:n.-360+57307A>G
NR_038321.2:n.84+57307A>G (OR51B5)