Canonical Allele Identifier: CA393995326

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.227040G>T (hg19) ; chr16:g.177041G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.177041G>T , CM000678.2:g.177041G>T	GRCh38
NC_000016.9:g.227040G>T , CM000678.1:g.227040G>T	GRCh37
NC_000016.8:g.167040G>T	NCBI36
NG_000006.1:g.37904G>T
NG_059186.1:g.5391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.208G>T MANE Select	ENSP00000322421.5:p.Ala70Ser
ENST00000397797.1:c.112G>T	ENSP00000380899.1:p.Ala38Ser
ENST00000472694.1:n.344G>T
ENST00000487791.1:n.177G>T
NM_000558.4:c.208G>T	NP_000549.1:p.Ala70Ser
NM_000558.5:c.208G>T MANE Select	NP_000549.1:p.Ala70Ser