Canonical Allele Identifier: CA597436237

Gene: HBD

Linked Data

• dbSNP Id: rs1224816118
• gnomAD v2: 11-5254115-G-A
• MyVariant Identifiers: chr11:g.5254115G>A (hg19) ; chr11:g.5232885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5232885G>A , CM000673.2:g.5232885G>A	GRCh38
NC_000011.9:g.5254115G>A , CM000673.1:g.5254115G>A	GRCh37
NC_000011.8:g.5210691G>A	NCBI36
NG_000007.3:g.64731C>T
NG_063112.2:g.15773C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.*79C>T	ENSP00000494708.1:n.*79C>T
ENST00000650601.1:c.*79C>T MANE Select	ENSP00000497529.1:n.*79C>T
ENST00000292901.7:c.316-87C>T	ENSP00000292901.3:n.316-87C>T
ENST00000380299.3:c.*79C>T	ENSP00000369654.3:n.*79C>T
NM_000519.3:c.*79C>T	NP_000510.1:n.*79C>T
NM_000519.4:c.*79C>T MANE Select	NP_000510.1:n.*79C>T