Canonical Allele Identifier: CA126021

Gene: HBA1

Linked Data

• ClinVar Variation Id: 15889
• ClinVar RCV Id: RCV000017235
• dbSNP Id: rs33960522
• ExAC: 16:226986 G / A
• gnomAD v2: 16-226986-G-A
• gnomAD v3: 16-176987-G-A
• gnomAD v4: 16-176987-G-A
• MyVariant Identifiers: chr16:g.226986G>A (hg19) ; chr16:g.176987G>A (hg38)
• PubMed: PMID:15768556

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176987G>A , CM000678.2:g.176987G>A	GRCh38
NC_000016.9:g.226986G>A , CM000678.1:g.226986G>A	GRCh37
NC_000016.8:g.166986G>A	NCBI36
NG_000006.1:g.37850G>A
NG_059186.1:g.5337G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.154G>A MANE Select	ENSP00000322421.5:p.Gly52Ser
ENST00000397797.1:c.58G>A	ENSP00000380899.1:p.Gly20Ser
ENST00000472694.1:n.290G>A
ENST00000487791.1:n.123G>A
NM_000558.4:c.154G>A	NP_000549.1:p.Gly52Ser
NM_000558.5:c.154G>A MANE Select	NP_000549.1:p.Gly52Ser