Canonical Allele Identifier: CA2840625519

Gene: HBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177150G>T , CM000678.2:g.177150G>T	GRCh38
NC_000016.9:g.227149G>T , CM000678.1:g.227149G>T	GRCh37
NC_000016.8:g.167149G>T	NCBI36
NG_000006.1:g.38013G>T
NG_059186.1:g.5500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.300+17G>T MANE Select	ENSP00000322421.5:n.300+17G>T
ENST00000397797.1:c.204+17G>T	ENSP00000380899.1:n.204+17G>T
ENST00000472694.1:n.436+17G>T
ENST00000487791.1:n.286G>T
NM_000558.4:c.300+17G>T	NP_000549.1:n.300+17G>T
NM_000558.5:c.300+17G>T MANE Select	NP_000549.1:n.300+17G>T