Canonical Allele Identifier: CA492994545

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227021G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177022G>T , CM000678.2:g.177022G>T	GRCh38
NC_000016.9:g.227021G>T , CM000678.1:g.227021G>T	GRCh37
NC_000016.8:g.167021G>T	NCBI36
NG_000006.1:g.37885G>T
NG_059186.1:g.5372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.189G>T MANE Select	ENSP00000322421.5:p.Val63=
ENST00000397797.1:c.93G>T	ENSP00000380899.1:p.Val31=
ENST00000472694.1:n.325G>T
ENST00000487791.1:n.158G>T
NM_000558.4:c.189G>T	NP_000549.1:p.Val63=
NM_000558.5:c.189G>T MANE Select	NP_000549.1:p.Val63=