Canonical Allele Identifier: CA5839947
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234132G>A
GRCh37 chr11:g.5255362G>A
gnomAD v2:
11:5255362 G / A
gnomAD v3:
11:5234132 G / A
gnomAD v4:
chr11-5234132-G-A
Joint Max Group AF 0.00015481 (AFR)
Genomes Max Group AF 0.00014902 (AFR)
Exomes Max Group AF 0.0000975 (AFR)
dbSNP:
35666685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234132G>A , CM000673.2:g.5234132G>A GRCh38
NC_000011.9:g.5255362G>A , CM000673.1:g.5255362G>A GRCh37
NC_000011.8:g.5211938G>A NCBI36
NG_000007.3:g.63484C>T
NG_063112.2:g.14526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.174C>T ENSP00000494708.1:p.Asn58=
ENST00000650601.1:c.174C>T MANE Select ENSP00000497529.1:p.Asn58=
ENST00000292901.7:c.174C>T ENSP00000292901.3:p.Asn58=
ENST00000380299.3:c.174C>T ENSP00000369654.3:p.Asn58=
ENST00000417377.1:c.92+210C>T ENSP00000414741.1:n.92+210C>T
ENST00000429817.1:c.174C>T ENSP00000393810.1:p.Asn58=
NM_000519.3:c.174C>T NP_000510.1:p.Asn58=
NM_000519.4:c.174C>T MANE Select NP_000510.1:p.Asn58=
Search 100 bp 5'
Search 100 bp 3'