Canonical Allele Identifier: CA125737

Gene: HBA1

Linked Data

• ClinVar Variation Id: 15733
• ClinVar RCV Id: RCV000017029 ; RCV000017028 ; RCV000017030 ; RCV000017031 ; RCV000017032 ; RCV000017033 ; RCV000417219 ; RCV000505861
• dbSNP Id: rs28928875
• MyVariant Identifiers: chr16:g.227055G>C (hg19) ; chr16:g.177056G>C (hg38)
• PubMed: PMID:508945 ; PMID:640847 ; PMID:1428945 ; PMID:1487419 ; PMID:2882671 ; PMID:2981252 ; PMID:5410724 ; PMID:5460202 ; PMID:5475469 ; PMID:7448125 ; PMID:13510789 ; PMID:13536534 ; PMID:13703277 ; PMID:20301608 ; PMID:21599435 ; PMID:24432778

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177056G>C , CM000678.2:g.177056G>C	GRCh38
NC_000016.9:g.227055G>C , CM000678.1:g.227055G>C	GRCh37
NC_000016.8:g.167055G>C	NCBI36
NG_000006.1:g.37919G>C
NG_059186.1:g.5406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.223G>C MANE Select	ENSP00000322421.5:p.Asp75His
ENST00000397797.1:c.127G>C	ENSP00000380899.1:p.Asp43His
ENST00000472694.1:n.359G>C
ENST00000487791.1:n.192G>C
NM_000558.4:c.223G>C	NP_000549.1:p.Asp75His
NM_000558.5:c.223G>C MANE Select	NP_000549.1:p.Asp75His