Canonical Allele Identifier: CA1949566255
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1847719134
gnomAD v4: 11-5234659-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234659A>T , CM000673.2:g.5234659A>T GRCh38
NC_000011.9:g.5255889A>T , CM000673.1:g.5255889A>T GRCh37
NC_000011.8:g.5212465A>T NCBI36
NG_000007.3:g.62957T>A
NG_063112.2:g.13999T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-198T>A ENSP00000494708.1:n.-28-198T>A
ENST00000429817.1:c.-97-129T>A ENSP00000393810.1:n.-97-129T>A