Canonical Allele Identifier: CA2612148695
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5233854-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233854T>G , CM000673.2:g.5233854T>G GRCh38
NC_000011.9:g.5255084T>G , CM000673.1:g.5255084T>G GRCh37
NC_000011.8:g.5211660T>G NCBI36
NG_000007.3:g.63762A>C
NG_063112.2:g.14804A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+137A>C ENSP00000494708.1:n.315+137A>C
ENST00000650601.1:c.315+137A>C MANE Select ENSP00000497529.1:n.315+137A>C
ENST00000292901.7:c.315+137A>C ENSP00000292901.3:n.315+137A>C
ENST00000380299.3:c.315+137A>C ENSP00000369654.3:n.315+137A>C
ENST00000417377.1:c.92+488A>C ENSP00000414741.1:n.92+488A>C
NM_000519.3:c.315+137A>C NP_000510.1:n.315+137A>C
NM_000519.4:c.315+137A>C MANE Select NP_000510.1:n.315+137A>C
Search 100 bp 5'
Search 100 bp 3'