Canonical Allele Identifier: CA393995227

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227013A>T (hg19) ; chr16:g.177014A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177014A>T , CM000678.2:g.177014A>T	GRCh38
NC_000016.9:g.227013A>T , CM000678.1:g.227013A>T	GRCh37
NC_000016.8:g.167013A>T	NCBI36
NG_000006.1:g.37877A>T
NG_059186.1:g.5364A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.181A>T MANE Select	ENSP00000322421.5:p.Lys61Ter
ENST00000397797.1:c.85A>T	ENSP00000380899.1:p.Lys29Ter
ENST00000472694.1:n.317A>T
ENST00000487791.1:n.150A>T
NM_000558.4:c.181A>T	NP_000549.1:p.Lys61Ter
NM_000558.5:c.181A>T MANE Select	NP_000549.1:p.Lys61Ter