Canonical Allele Identifier: CA677545458

Gene: HBD

Linked Data

• dbSNP Id: rs1038005622
• gnomAD v3: 11-5233739-T-A
• gnomAD v4: 11-5233739-T-A
• MyVariant Identifiers: chr11:g.5254969T>A (hg19) ; chr11:g.5233739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233739T>A , CM000673.2:g.5233739T>A	GRCh38
NC_000011.9:g.5254969T>A , CM000673.1:g.5254969T>A	GRCh37
NC_000011.8:g.5211545T>A	NCBI36
NG_000007.3:g.63877A>T
NG_063112.2:g.14919A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.315+252A>T	ENSP00000494708.1:n.315+252A>T
ENST00000650601.1:c.315+252A>T MANE Select	ENSP00000497529.1:n.315+252A>T
ENST00000292901.7:c.315+252A>T	ENSP00000292901.3:n.315+252A>T
ENST00000380299.3:c.315+252A>T	ENSP00000369654.3:n.315+252A>T
ENST00000417377.1:c.92+603A>T	ENSP00000414741.1:n.92+603A>T
NM_000519.3:c.315+252A>T	NP_000510.1:n.315+252A>T
NM_000519.4:c.315+252A>T MANE Select	NP_000510.1:n.315+252A>T