Canonical Allele Identifier: CA1949566320
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs190495739
gnomAD v4: 11-5234696-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234696C>A , CM000673.2:g.5234696C>A GRCh38
NC_000011.9:g.5255926C>A , CM000673.1:g.5255926C>A GRCh37
NC_000011.8:g.5212502C>A NCBI36
NG_000007.3:g.62920G>T
NG_063112.2:g.13962G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-235G>T ENSP00000494708.1:n.-28-235G>T
ENST00000429817.1:c.-97-166G>T ENSP00000393810.1:n.-97-166G>T
Search 100 bp 5'
Search 100 bp 3'