Canonical Allele Identifier: CA677547064

Gene: HBD

Linked Data

• dbSNP Id: rs1359162681
• gnomAD v3: 11-5234582-G-A
• gnomAD v4: 11-5234582-G-A
• MyVariant Identifiers: chr11:g.5255812G>A (hg19) ; chr11:g.5234582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234582G>A , CM000673.2:g.5234582G>A	GRCh38
NC_000011.9:g.5255812G>A , CM000673.1:g.5255812G>A	GRCh37
NC_000011.8:g.5212388G>A	NCBI36
NG_000007.3:g.63034C>T
NG_063112.2:g.14076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-121C>T	ENSP00000494708.1:n.-28-121C>T
ENST00000380299.3:c.-149C>T	ENSP00000369654.3:n.-149C>T
ENST00000429817.1:c.-97-52C>T	ENSP00000393810.1:n.-97-52C>T
NM_000519.3:c.-149C>T	NP_000510.1:n.-149C>T