Canonical Allele Identifier: CA217124570

Gene: HBD

Linked Data

• dbSNP Id: rs866949719
• gnomAD v4: 11-5234588-G-A
• MyVariant Identifiers: chr11:g.5255818G>A (hg19) ; chr11:g.5234588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234588G>A , CM000673.2:g.5234588G>A	GRCh38
NC_000011.9:g.5255818G>A , CM000673.1:g.5255818G>A	GRCh37
NC_000011.8:g.5212394G>A	NCBI36
NG_000007.3:g.63028C>T
NG_063112.2:g.14070C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-127C>T	ENSP00000494708.1:n.-28-127C>T
ENST00000380299.3:c.-155C>T	ENSP00000369654.3:n.-155C>T
ENST00000429817.1:c.-97-58C>T	ENSP00000393810.1:n.-97-58C>T
NM_000519.3:c.-155C>T	NP_000510.1:n.-155C>T