Canonical Allele Identifier: CA597436239
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1320721138
gnomAD v2: 11-5254149-G-A
gnomAD v3: 11-5232919-G-A
gnomAD v4: 11-5232919-G-A
MyVariant Identifiers: chr11:g.5254149G>A (hg19) chr11:g.5232919G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5232919G>A , CM000673.2:g.5232919G>A GRCh38
NC_000011.9:g.5254149G>A , CM000673.1:g.5254149G>A GRCh37
NC_000011.8:g.5210725G>A NCBI36
NG_000007.3:g.64697C>T
NG_063112.2:g.15739C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.*45C>T ENSP00000494708.1:n.*45C>T
ENST00000650601.1:c.*45C>T MANE Select ENSP00000497529.1:n.*45C>T
ENST00000292901.7:c.316-121C>T ENSP00000292901.3:n.316-121C>T
ENST00000380299.3:c.*45C>T ENSP00000369654.3:n.*45C>T
NM_000519.3:c.*45C>T NP_000510.1:n.*45C>T
NM_000519.4:c.*45C>T MANE Select NP_000510.1:n.*45C>T
Search 100 bp 5'
Search 100 bp 3'