Canonical Allele Identifier: CA5839994
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234374G>A
GRCh37 chr11:g.5255604G>A
gnomAD v2:
11:5255604 G / A
gnomAD v3:
11:5234374 G / A
gnomAD v4:
chr11-5234374-G-A
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00005287 (AMR)
Exomes Max Group AF 0.00000576 (NFE)
ClinVar RCV:
RCV001107778
ClinVar Variation:
879891
dbSNP:
777991732
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234374G>A , CM000673.2:g.5234374G>A GRCh38
NC_000011.9:g.5255604G>A , CM000673.1:g.5255604G>A GRCh37
NC_000011.8:g.5212180G>A NCBI36
NG_000007.3:g.63242C>T
NG_063112.2:g.14284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.60C>T ENSP00000494708.1:p.Asn20=
ENST00000650601.1:c.60C>T MANE Select ENSP00000497529.1:p.Asn20=
ENST00000292901.7:c.60C>T ENSP00000292901.3:p.Asn20=
ENST00000380299.3:c.60C>T ENSP00000369654.3:p.Asn20=
ENST00000417377.1:c.60C>T ENSP00000414741.1:p.Asn20=
ENST00000429817.1:c.60C>T ENSP00000393810.1:p.Asn20=
NM_000519.3:c.60C>T NP_000510.1:p.Asn20=
NM_000519.4:c.60C>T MANE Select NP_000510.1:p.Asn20=
Search 100 bp 5'
Search 100 bp 3'