Canonical Allele Identifier: CA217123653

Gene: HBD

Linked Data

• dbSNP Id: rs181334077
• gnomAD v2: 11-5255022-T-C
• gnomAD v3: 11-5233792-T-C
• gnomAD v4: 11-5233792-T-C
• MyVariant Identifiers: chr11:g.5255022T>C (hg19) ; chr11:g.5233792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233792T>C , CM000673.2:g.5233792T>C	GRCh38
NC_000011.9:g.5255022T>C , CM000673.1:g.5255022T>C	GRCh37
NC_000011.8:g.5211598T>C	NCBI36
NG_000007.3:g.63824A>G
NG_063112.2:g.14866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.315+199A>G	ENSP00000494708.1:n.315+199A>G
ENST00000650601.1:c.315+199A>G MANE Select	ENSP00000497529.1:n.315+199A>G
ENST00000292901.7:c.315+199A>G	ENSP00000292901.3:n.315+199A>G
ENST00000380299.3:c.315+199A>G	ENSP00000369654.3:n.315+199A>G
ENST00000417377.1:c.92+550A>G	ENSP00000414741.1:n.92+550A>G
NM_000519.3:c.315+199A>G	NP_000510.1:n.315+199A>G
NM_000519.4:c.315+199A>G MANE Select	NP_000510.1:n.315+199A>G