Canonical Allele Identifier: CA379276214
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5232765C>A
GRCh37 chr11:g.5253995C>A
Revel Score:
ENST00000292901 0.185
gnomAD v2:
11:5253995 C / A
gnomAD v4:
chr11-5232765-C-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000836 (EAS)
dbSNP:
35324967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232765C>A , CM000673.2:g.5232765C>A GRCh38
NC_000011.9:g.5253995C>A , CM000673.1:g.5253995C>A GRCh37
NC_000011.8:g.5210571C>A NCBI36
NG_000007.3:g.64851G>T
NG_063112.2:g.15893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292901.7:c.349G>T ENSP00000292901.3:p.Gly117Trp
Search 100 bp 5'
Search 100 bp 3'