Canonical Allele Identifier: CA472885874

Gene: HBD

Linked Data

• dbSNP Id: rs1847702942
• gnomAD v4: 11-5234000-C-T
• MyVariant Identifiers: chr11:g.5255230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234000C>T , CM000673.2:g.5234000C>T	GRCh38
NC_000011.9:g.5255230C>T , CM000673.1:g.5255230C>T	GRCh37
NC_000011.8:g.5211806C>T	NCBI36
NG_000007.3:g.63616G>A
NG_063112.2:g.14658G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.306G>A	ENSP00000494708.1:p.Glu102=
ENST00000650601.1:c.306G>A MANE Select	ENSP00000497529.1:p.Glu102=
ENST00000292901.7:c.306G>A	ENSP00000292901.3:p.Glu102=
ENST00000380299.3:c.306G>A	ENSP00000369654.3:p.Glu102=
ENST00000417377.1:c.92+342G>A	ENSP00000414741.1:n.92+342G>A
ENST00000429817.1:c.306G>A	ENSP00000393810.1:p.Glu102=
NM_000519.3:c.306G>A	NP_000510.1:p.Glu102=
NM_000519.4:c.306G>A MANE Select	NP_000510.1:p.Glu102=