Canonical Allele Identifier: CA677552289

Gene: HBBP1 HBD

Linked Data

• dbSNP Id: rs1381646231
• gnomAD v3: 11-5242473-A-T
• gnomAD v4: 11-5242473-A-T
• MyVariant Identifiers: chr11:g.5263703A>T (hg19) ; chr11:g.5242473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5242473A>T , CM000673.2:g.5242473A>T	GRCh38
NC_000011.9:g.5263703A>T , CM000673.1:g.5263703A>T	GRCh37
NC_000011.8:g.5220279A>T	NCBI36
NG_000007.3:g.55143T>A
NG_063112.2:g.6185T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000454892.2:n.308-226T>A (HBBP1)
ENST00000643122.1:c.-29+977T>A (HBD)	ENSP00000494708.1:n.-29+977T>A
ENST00000433329.1:n.312-226T>A (HBBP1)
ENST00000454892.1:n.162-226T>A (HBBP1)
NR_001589.1:n.367-226T>A (HBBP1)