Canonical Allele Identifier: CA2579829192
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227110-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227110C>A , CM000673.2:g.5227110C>A GRCh38
NC_000011.9:g.5248340C>A , CM000673.1:g.5248340C>A GRCh37
NC_000011.8:g.5204916C>A NCBI36
NG_000007.3:g.70506G>T
NG_059281.1:g.4962G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-89G>T ENSP00000494175.1:n.-89G>T
ENST00000380315.2:c.-18-71G>T ENSP00000369671.2:n.-18-71G>T
Search 100 bp 5'
Search 100 bp 3'