Canonical Allele Identifier: CA379276735

Gene: HBD

Linked Data

• gnomAD v4: 11-5234004-G-A
• MyVariant Identifiers: chr11:g.5255234G>A (hg19) ; chr11:g.5234004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234004G>A , CM000673.2:g.5234004G>A	GRCh38
NC_000011.9:g.5255234G>A , CM000673.1:g.5255234G>A	GRCh37
NC_000011.8:g.5211810G>A	NCBI36
NG_000007.3:g.63612C>T
NG_063112.2:g.14654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.302C>T	ENSP00000494708.1:p.Pro101Leu
ENST00000650601.1:c.302C>T MANE Select	ENSP00000497529.1:p.Pro101Leu
ENST00000292901.7:c.302C>T	ENSP00000292901.3:p.Pro101Leu
ENST00000380299.3:c.302C>T	ENSP00000369654.3:p.Pro101Leu
ENST00000417377.1:c.92+338C>T	ENSP00000414741.1:n.92+338C>T
ENST00000429817.1:c.302C>T	ENSP00000393810.1:p.Pro101Leu
NM_000519.3:c.302C>T	NP_000510.1:p.Pro101Leu
NM_000519.4:c.302C>T MANE Select	NP_000510.1:p.Pro101Leu