Canonical Allele Identifier: CA217120651

Gene: HBD

Linked Data

• dbSNP Id: rs36049174
• gnomAD v3: 11-5233056-T-C
• gnomAD v4: 11-5233056-T-C
• MyVariant Identifiers: chr11:g.5254286T>C (hg19) ; chr11:g.5233056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233056T>C , CM000673.2:g.5233056T>C	GRCh38
NC_000011.9:g.5254286T>C , CM000673.1:g.5254286T>C	GRCh37
NC_000011.8:g.5210862T>C	NCBI36
NG_000007.3:g.64560A>G
NG_063112.2:g.15602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.352A>G	ENSP00000494708.1:p.Asn118Asp
ENST00000650601.1:c.352A>G MANE Select	ENSP00000497529.1:p.Asn118Asp
ENST00000292901.7:c.316-258A>G	ENSP00000292901.3:n.316-258A>G
ENST00000380299.3:c.352A>G	ENSP00000369654.3:p.Asn118Asp
ENST00000417377.1:c.129A>G	ENSP00000414741.1:p.Ala43=
NM_000519.3:c.352A>G	NP_000510.1:p.Asn118Asp
NM_000519.4:c.352A>G MANE Select	NP_000510.1:p.Asn118Asp