Canonical Allele Identifier: CA393995172

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226998G>T (hg19) ; chr16:g.176999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176999G>T , CM000678.2:g.176999G>T	GRCh38
NC_000016.9:g.226998G>T , CM000678.1:g.226998G>T	GRCh37
NC_000016.8:g.166998G>T	NCBI36
NG_000006.1:g.37862G>T
NG_059186.1:g.5349G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.166G>T MANE Select	ENSP00000322421.5:p.Val56Phe
ENST00000397797.1:c.70G>T	ENSP00000380899.1:p.Val24Phe
ENST00000472694.1:n.302G>T
ENST00000487791.1:n.135G>T
NM_000558.4:c.166G>T	NP_000549.1:p.Val56Phe
NM_000558.5:c.166G>T MANE Select	NP_000549.1:p.Val56Phe