Canonical Allele Identifier: CA2579829183
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227106-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227106C>T , CM000673.2:g.5227106C>T GRCh38
NC_000011.9:g.5248336C>T , CM000673.1:g.5248336C>T GRCh37
NC_000011.8:g.5204912C>T NCBI36
NG_000007.3:g.70510G>A
NG_059281.1:g.4966G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-85G>A ENSP00000494175.1:n.-85G>A
ENST00000380315.2:c.-18-67G>A ENSP00000369671.2:n.-18-67G>A