Canonical Allele Identifier: CA393995168

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226997G>T (hg19) ; chr16:g.176998G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176998G>T , CM000678.2:g.176998G>T	GRCh38
NC_000016.9:g.226997G>T , CM000678.1:g.226997G>T	GRCh37
NC_000016.8:g.166997G>T	NCBI36
NG_000006.1:g.37861G>T
NG_059186.1:g.5348G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.165G>T MANE Select	ENSP00000322421.5:p.Gln55His
ENST00000397797.1:c.69G>T	ENSP00000380899.1:p.Gln23His
ENST00000472694.1:n.301G>T
ENST00000487791.1:n.134G>T
NM_000558.4:c.165G>T	NP_000549.1:p.Gln55His
NM_000558.5:c.165G>T MANE Select	NP_000549.1:p.Gln55His