Canonical Allele Identifier: CA5839926

Gene: HBD

Linked Data

• dbSNP Id: rs281864492
• ExAC: 11:5255220 C / T
• gnomAD v2: 11-5255220-C-T
• gnomAD v3: 11-5233990-C-T
• gnomAD v4: 11-5233990-C-T
• MyVariant Identifiers: chr11:g.5255220C>T (hg19) ; chr11:g.5233990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233990C>T , CM000673.2:g.5233990C>T	GRCh38
NC_000011.9:g.5255220C>T , CM000673.1:g.5255220C>T	GRCh37
NC_000011.8:g.5211796C>T	NCBI36
NG_000007.3:g.63626G>A
NG_063112.2:g.14668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.315+1G>A	ENSP00000494708.1:n.315+1G>A
ENST00000650601.1:c.315+1G>A MANE Select	ENSP00000497529.1:n.315+1G>A
ENST00000292901.7:c.315+1G>A	ENSP00000292901.3:n.315+1G>A
ENST00000380299.3:c.315+1G>A	ENSP00000369654.3:n.315+1G>A
ENST00000417377.1:c.92+352G>A	ENSP00000414741.1:n.92+352G>A
NM_000519.3:c.315+1G>A	NP_000510.1:n.315+1G>A
NM_000519.4:c.315+1G>A MANE Select	NP_000510.1:n.315+1G>A