Canonical Allele Identifier: CA1949691999

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5448377A= , CM000673.2:g.5448377A= GRCh38
NC_000011.9:g.5469607A= , CM000673.1:g.5469607A= GRCh37
NC_000011.8:g.5426183A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-267+57192T= (HBE1) ENSP00000292896.2:n.-267+57192T=
ENST00000380252.6:c.-74+56974T= (HBG2) ENSP00000369602.2:n.-74+56974T=
ENST00000380259.7:c.983-102478T= ENSP00000369609.3:n.983-102478T=
ENST00000415970.6:n.84+57192T= (OR51B5)
ENST00000418729.1:n.84+57192T= (OR51B5)
ENST00000420465.6:n.45+57192T= (OR51B5)
ENST00000420726.6:n.45+57192T= (OR51B5)
ENST00000380237.5:c.-310+57192T= (HBE1) ENSP00000369586.1:n.-310+57192T=
ENST00000380252.5:c.62+56974T= (HBG2) ENSP00000369602.1:n.62+56974T=
ENST00000380259.6:c.-564-102478T= (HBG2) ENSP00000369609.2:n.-564-102478T=
ENST00000396895.1:c.-267+57192T= (HBE1) ENSP00000380104.1:n.-267+57192T=
NM_001005567.2:c.-360+57192T= (OR51B5) NP_001005567.2:n.-360+57192T=
NR_038321.1:n.84+57192T= (OR51B5)
XM_011520010.1:c.-360+2617T= (OR51B5) XP_011518312.1:n.-360+2617T=
NM_001005567.3:c.-360+57192T= (OR51B5) NP_001005567.2:n.-360+57192T=
NR_038321.2:n.84+57192T= (OR51B5)