Canonical Allele Identifier: CA379276453

Gene: HBD

Linked Data

• dbSNP Id: rs1564878579
• MyVariant Identifiers: chr11:g.5254232C>A (hg19) ; chr11:g.5233002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233002C>A , CM000673.2:g.5233002C>A	GRCh38
NC_000011.9:g.5254232C>A , CM000673.1:g.5254232C>A	GRCh37
NC_000011.8:g.5210808C>A	NCBI36
NG_000007.3:g.64614G>T
NG_063112.2:g.15656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.406G>T	ENSP00000494708.1:p.Ala136Ser
ENST00000650601.1:c.406G>T MANE Select	ENSP00000497529.1:p.Ala136Ser
ENST00000292901.7:c.316-204G>T	ENSP00000292901.3:n.316-204G>T
ENST00000380299.3:c.406G>T	ENSP00000369654.3:p.Ala136Ser
ENST00000417377.1:c.183G>T	ENSP00000414741.1:p.Trp61Cys
NM_000519.3:c.406G>T	NP_000510.1:p.Ala136Ser
NM_000519.4:c.406G>T MANE Select	NP_000510.1:p.Ala136Ser