Canonical Allele Identifier: CA1949575231

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5242476G= , CM000673.2:g.5242476G= GRCh38
NC_000011.9:g.5263706G= , CM000673.1:g.5263706G= GRCh37
NC_000011.8:g.5220282G= NCBI36
NG_000007.3:g.55140C=
NG_063112.2:g.6182C=

Transcript Alleles

HGVS Amino-acid change
ENST00000454892.2:n.308-229C= (HBBP1)
ENST00000643122.1:c.-29+974C= (HBD) ENSP00000494708.1:n.-29+974C=
ENST00000433329.1:n.312-229C= (HBBP1)
ENST00000454892.1:n.162-229C= (HBBP1)
NR_001589.1:n.367-229C= (HBBP1)