Canonical Allele Identifier: CA1949692021

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5448397G= , CM000673.2:g.5448397G= GRCh38
NC_000011.9:g.5469627G= , CM000673.1:g.5469627G= GRCh37
NC_000011.8:g.5426203G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-267+57172C= (HBE1) ENSP00000292896.2:n.-267+57172C=
ENST00000380252.6:c.-74+56954C= (HBG2) ENSP00000369602.2:n.-74+56954C=
ENST00000380259.7:c.983-102498C= ENSP00000369609.3:n.983-102498C=
ENST00000415970.6:n.84+57172C= (OR51B5)
ENST00000418729.1:n.84+57172C= (OR51B5)
ENST00000420465.6:n.45+57172C= (OR51B5)
ENST00000420726.6:n.45+57172C= (OR51B5)
ENST00000380237.5:c.-310+57172C= (HBE1) ENSP00000369586.1:n.-310+57172C=
ENST00000380252.5:c.62+56954C= (HBG2) ENSP00000369602.1:n.62+56954C=
ENST00000380259.6:c.-564-102498C= (HBG2) ENSP00000369609.2:n.-564-102498C=
ENST00000396895.1:c.-267+57172C= (HBE1) ENSP00000380104.1:n.-267+57172C=
NM_001005567.2:c.-360+57172C= (OR51B5) NP_001005567.2:n.-360+57172C=
NR_038321.1:n.84+57172C= (OR51B5)
XM_011520010.1:c.-360+2597C= (OR51B5) XP_011518312.1:n.-360+2597C=
NM_001005567.3:c.-360+57172C= (OR51B5) NP_001005567.2:n.-360+57172C=
NR_038321.2:n.84+57172C= (OR51B5)