Canonical Allele Identifier: CA393995249

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227019G>C (hg19) ; chr16:g.177020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177020G>C , CM000678.2:g.177020G>C	GRCh38
NC_000016.9:g.227019G>C , CM000678.1:g.227019G>C	GRCh37
NC_000016.8:g.167019G>C	NCBI36
NG_000006.1:g.37883G>C
NG_059186.1:g.5370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.187G>C MANE Select	ENSP00000322421.5:p.Val63Leu
ENST00000397797.1:c.91G>C	ENSP00000380899.1:p.Val31Leu
ENST00000472694.1:n.323G>C
ENST00000487791.1:n.156G>C
NM_000558.4:c.187G>C	NP_000549.1:p.Val63Leu
NM_000558.5:c.187G>C MANE Select	NP_000549.1:p.Val63Leu