Canonical Allele Identifier: CA393995135

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226984A>C (hg19) ; chr16:g.176985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176985A>C , CM000678.2:g.176985A>C	GRCh38
NC_000016.9:g.226984A>C , CM000678.1:g.226984A>C	GRCh37
NC_000016.8:g.166984A>C	NCBI36
NG_000006.1:g.37848A>C
NG_059186.1:g.5335A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.152A>C MANE Select	ENSP00000322421.5:p.His51Pro
ENST00000397797.1:c.56A>C	ENSP00000380899.1:p.His19Pro
ENST00000472694.1:n.288A>C
ENST00000487791.1:n.121A>C
NM_000558.4:c.152A>C	NP_000549.1:p.His51Pro
NM_000558.5:c.152A>C MANE Select	NP_000549.1:p.His51Pro