Canonical Allele Identifier: CA124689
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234353C>G
GRCh37 chr11:g.5255583C>G
Revel Score:
ENST00000292901 0.602
ENST00000380299 0.602
ENST00000417377 0.602
ENST00000429817 0.602
gnomAD v2:
11:5255583 C / G
gnomAD v4:
chr11-5234353-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000016228
ClinVar Variation:
15075
dbSNP:
34289459
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234353C>G , CM000673.2:g.5234353C>G GRCh38
NC_000011.9:g.5255583C>G , CM000673.1:g.5255583C>G GRCh37
NC_000011.8:g.5212159C>G NCBI36
NG_000007.3:g.63263G>C
NG_063112.2:g.14305G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.81G>C ENSP00000494708.1:p.Glu27Asp
ENST00000650601.1:c.81G>C MANE Select ENSP00000497529.1:p.Glu27Asp
ENST00000292901.7:c.81G>C ENSP00000292901.3:p.Glu27Asp
ENST00000380299.3:c.81G>C ENSP00000369654.3:p.Glu27Asp
ENST00000417377.1:c.81G>C ENSP00000414741.1:p.Glu27Asp
ENST00000429817.1:c.81G>C ENSP00000393810.1:p.Glu27Asp
NM_000519.3:c.81G>C NP_000510.1:p.Glu27Asp
NM_000519.4:c.81G>C MANE Select NP_000510.1:p.Glu27Asp
Search 100 bp 5'
Search 100 bp 3'