Canonical Allele Identifier: CA393995399

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227061A>C (hg19) ; chr16:g.177062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177062A>C , CM000678.2:g.177062A>C	GRCh38
NC_000016.9:g.227061A>C , CM000678.1:g.227061A>C	GRCh37
NC_000016.8:g.167061A>C	NCBI36
NG_000006.1:g.37925A>C
NG_059186.1:g.5412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.229A>C MANE Select	ENSP00000322421.5:p.Met77Leu
ENST00000397797.1:c.133A>C	ENSP00000380899.1:p.Met45Leu
ENST00000472694.1:n.365A>C
ENST00000487791.1:n.198A>C
NM_000558.4:c.229A>C	NP_000549.1:p.Met77Leu
NM_000558.5:c.229A>C MANE Select	NP_000549.1:p.Met77Leu