Canonical Allele Identifier: CA379276763

Gene: HBD

Linked Data

• dbSNP Id: rs371945255
• gnomAD v2: 11-5255247-G-T
• gnomAD v4: 11-5234017-G-T
• MyVariant Identifiers: chr11:g.5255247G>T (hg19) ; chr11:g.5234017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234017G>T , CM000673.2:g.5234017G>T	GRCh38
NC_000011.9:g.5255247G>T , CM000673.1:g.5255247G>T	GRCh37
NC_000011.8:g.5211823G>T	NCBI36
NG_000007.3:g.63599C>A
NG_063112.2:g.14641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.289C>A	ENSP00000494708.1:p.Leu97Met
ENST00000650601.1:c.289C>A MANE Select	ENSP00000497529.1:p.Leu97Met
ENST00000292901.7:c.289C>A	ENSP00000292901.3:p.Leu97Met
ENST00000380299.3:c.289C>A	ENSP00000369654.3:p.Leu97Met
ENST00000417377.1:c.92+325C>A	ENSP00000414741.1:n.92+325C>A
ENST00000429817.1:c.289C>A	ENSP00000393810.1:p.Leu97Met
NM_000519.3:c.289C>A	NP_000510.1:p.Leu97Met
NM_000519.4:c.289C>A MANE Select	NP_000510.1:p.Leu97Met