Canonical Allele Identifier: CA393995189

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227002A>T (hg19) ; chr16:g.177003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177003A>T , CM000678.2:g.177003A>T	GRCh38
NC_000016.9:g.227002A>T , CM000678.1:g.227002A>T	GRCh37
NC_000016.8:g.167002A>T	NCBI36
NG_000006.1:g.37866A>T
NG_059186.1:g.5353A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.170A>T MANE Select	ENSP00000322421.5:p.Lys57Met
ENST00000397797.1:c.74A>T	ENSP00000380899.1:p.Lys25Met
ENST00000472694.1:n.306A>T
ENST00000487791.1:n.139A>T
NM_000558.4:c.170A>T	NP_000549.1:p.Lys57Met
NM_000558.5:c.170A>T MANE Select	NP_000549.1:p.Lys57Met