Canonical Allele Identifier: CA597218696
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1474872077
gnomAD v2: 11-5255879-G-T
gnomAD v3: 11-5234649-G-T
gnomAD v4: 11-5234649-G-T
MyVariant Identifiers: chr11:g.5255879G>T (hg19) chr11:g.5234649G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234649G>T , CM000673.2:g.5234649G>T GRCh38
NC_000011.9:g.5255879G>T , CM000673.1:g.5255879G>T GRCh37
NC_000011.8:g.5212455G>T NCBI36
NG_000007.3:g.62967C>A
NG_063112.2:g.14009C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-188C>A ENSP00000494708.1:n.-28-188C>A
ENST00000429817.1:c.-97-119C>A ENSP00000393810.1:n.-97-119C>A
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