Canonical Allele Identifier: CA379276500

Gene: HBD

Linked Data

• MyVariant Identifiers: chr11:g.5254249G>T (hg19) ; chr11:g.5233019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5233019G>T , CM000673.2:g.5233019G>T	GRCh38
NC_000011.9:g.5254249G>T , CM000673.1:g.5254249G>T	GRCh37
NC_000011.8:g.5210825G>T	NCBI36
NG_000007.3:g.64597C>A
NG_063112.2:g.15639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.389C>A	ENSP00000494708.1:p.Ala130Asp
ENST00000650601.1:c.389C>A MANE Select	ENSP00000497529.1:p.Ala130Asp
ENST00000292901.7:c.316-221C>A	ENSP00000292901.3:n.316-221C>A
ENST00000380299.3:c.389C>A	ENSP00000369654.3:p.Ala130Asp
ENST00000417377.1:c.166C>A	ENSP00000414741.1:p.Pro56Thr
NM_000519.3:c.389C>A	NP_000510.1:p.Ala130Asp
NM_000519.4:c.389C>A MANE Select	NP_000510.1:p.Ala130Asp