Canonical Allele Identifier: CA217124457

Gene: HBD

Linked Data

• dbSNP Id: rs376434461
• gnomAD v2: 11-5255697-A-C
• gnomAD v3: 11-5234467-A-C
• gnomAD v4: 11-5234467-A-C
• MyVariant Identifiers: chr11:g.5255697A>C (hg19) ; chr11:g.5234467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234467A>C , CM000673.2:g.5234467A>C	GRCh38
NC_000011.9:g.5255697A>C , CM000673.1:g.5255697A>C	GRCh37
NC_000011.8:g.5212273A>C	NCBI36
NG_000007.3:g.63149T>G
NG_063112.2:g.14191T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-6T>G	ENSP00000494708.1:n.-28-6T>G
ENST00000650601.1:c.-34T>G MANE Select	ENSP00000497529.1:n.-34T>G
ENST00000292901.7:c.-34T>G	ENSP00000292901.3:n.-34T>G
ENST00000380299.3:c.-34T>G	ENSP00000369654.3:n.-34T>G
ENST00000417377.1:c.-34T>G	ENSP00000414741.1:n.-34T>G
ENST00000429817.1:c.-34T>G	ENSP00000393810.1:n.-34T>G
NM_000519.3:c.-34T>G	NP_000510.1:n.-34T>G
NM_000519.4:c.-34T>G MANE Select	NP_000510.1:n.-34T>G