Canonical Allele Identifier: CA2612148749
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5233926-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233926G>A , CM000673.2:g.5233926G>A GRCh38
NC_000011.9:g.5255156G>A , CM000673.1:g.5255156G>A GRCh37
NC_000011.8:g.5211732G>A NCBI36
NG_000007.3:g.63690C>T
NG_063112.2:g.14732C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+65C>T ENSP00000494708.1:n.315+65C>T
ENST00000650601.1:c.315+65C>T MANE Select ENSP00000497529.1:n.315+65C>T
ENST00000292901.7:c.315+65C>T ENSP00000292901.3:n.315+65C>T
ENST00000380299.3:c.315+65C>T ENSP00000369654.3:n.315+65C>T
ENST00000417377.1:c.92+416C>T ENSP00000414741.1:n.92+416C>T
NM_000519.3:c.315+65C>T NP_000510.1:n.315+65C>T
NM_000519.4:c.315+65C>T MANE Select NP_000510.1:n.315+65C>T
Search 100 bp 5'
Search 100 bp 3'