Canonical Allele Identifier: CA7770225

Gene: HBA1

Linked Data

• ClinVar Variation Id: 439103
• ClinVar RCV Id: RCV000506883 ; RCV001078391
• dbSNP Id: rs33964317
• ExAC: 16:226758 T / C
• gnomAD v2: 16-226758-T-C
• gnomAD v3: 16-176759-T-C
• gnomAD v4: 16-176759-T-C
• MyVariant Identifiers: chr16:g.226758T>C (hg19) ; chr16:g.226758_226759delinsCG (hg19) ; chr16:g.176759T>C (hg38)
• PubMed: PMID:6725558 ; PMID:6882779 ; PMID:15008259 ; PMID:22924376

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176759T>C , CM000678.2:g.176759T>C	GRCh38
NC_000016.9:g.226758T>C , CM000678.1:g.226758T>C	GRCh37
NC_000016.8:g.166758T>C	NCBI36
NG_000006.1:g.37622T>C
NG_059186.1:g.5109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.43T>C MANE Select	ENSP00000322421.5:p.Trp15Arg
ENST00000397797.1:c.-5T>C	ENSP00000380899.1:n.-5T>C
ENST00000472694.1:n.62T>C
ENST00000487791.1:n.12T>C
NM_000558.4:c.43T>C	NP_000549.1:p.Trp15Arg
NM_000558.5:c.43T>C MANE Select	NP_000549.1:p.Trp15Arg