Canonical Allele Identifier: CA393995257

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227020T>G (hg19) ; chr16:g.177021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177021T>G , CM000678.2:g.177021T>G	GRCh38
NC_000016.9:g.227020T>G , CM000678.1:g.227020T>G	GRCh37
NC_000016.8:g.167020T>G	NCBI36
NG_000006.1:g.37884T>G
NG_059186.1:g.5371T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.188T>G MANE Select	ENSP00000322421.5:p.Val63Gly
ENST00000397797.1:c.92T>G	ENSP00000380899.1:p.Val31Gly
ENST00000472694.1:n.324T>G
ENST00000487791.1:n.157T>G
NM_000558.4:c.188T>G	NP_000549.1:p.Val63Gly
NM_000558.5:c.188T>G MANE Select	NP_000549.1:p.Val63Gly