Canonical Allele Identifier: CA5840019

Gene: HBD

Linked Data

• dbSNP Id: rs202223735
• ExAC: 11:5255698 T / C
• gnomAD v2: 11-5255698-T-C
• gnomAD v3: 11-5234468-T-C
• gnomAD v4: 11-5234468-T-C
• MyVariant Identifiers: chr11:g.5255698T>C (hg19) ; chr11:g.5234468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234468T>C , CM000673.2:g.5234468T>C	GRCh38
NC_000011.9:g.5255698T>C , CM000673.1:g.5255698T>C	GRCh37
NC_000011.8:g.5212274T>C	NCBI36
NG_000007.3:g.63148A>G
NG_063112.2:g.14190A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-7A>G	ENSP00000494708.1:n.-28-7A>G
ENST00000650601.1:c.-35A>G MANE Select	ENSP00000497529.1:n.-35A>G
ENST00000292901.7:c.-35A>G	ENSP00000292901.3:n.-35A>G
ENST00000380299.3:c.-35A>G	ENSP00000369654.3:n.-35A>G
ENST00000417377.1:c.-35A>G	ENSP00000414741.1:n.-35A>G
ENST00000429817.1:c.-35A>G	ENSP00000393810.1:n.-35A>G
NM_000519.3:c.-35A>G	NP_000510.1:n.-35A>G
NM_000519.4:c.-35A>G MANE Select	NP_000510.1:n.-35A>G