Canonical Allele Identifier: CA125688

Gene: HBA1

Linked Data

• ClinVar Variation Id: 15707
• ClinVar RCV Id: RCV000016999 ; RCV000017000 ; RCV000017001
• dbSNP Id: rs33914470
• ExAC: 16:227105 G / C
• gnomAD v2: 16-227105-G-C
• gnomAD v4: 16-177106-G-C
• MyVariant Identifiers: chr16:g.227105G>C (hg19) ; chr16:g.177106G>C (hg38)
• PubMed: PMID:740406 ; PMID:4228361 ; PMID:5452727 ; PMID:5750181

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177106G>C , CM000678.2:g.177106G>C	GRCh38
NC_000016.9:g.227105G>C , CM000678.1:g.227105G>C	GRCh37
NC_000016.8:g.167105G>C	NCBI36
NG_000006.1:g.37969G>C
NG_059186.1:g.5456G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.273G>C MANE Select	ENSP00000322421.5:p.Lys91Asn
ENST00000397797.1:c.177G>C	ENSP00000380899.1:p.Lys59Asn
ENST00000472694.1:n.409G>C
ENST00000487791.1:n.242G>C
NM_000558.4:c.273G>C	NP_000549.1:p.Lys91Asn
NM_000558.5:c.273G>C MANE Select	NP_000549.1:p.Lys91Asn