Canonical Allele Identifier: CA393995048

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226933T>C (hg19) ; chr16:g.176934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176934T>C , CM000678.2:g.176934T>C	GRCh38
NC_000016.9:g.226933T>C , CM000678.1:g.226933T>C	GRCh37
NC_000016.8:g.166933T>C	NCBI36
NG_000006.1:g.37797T>C
NG_059186.1:g.5284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.101T>C MANE Select	ENSP00000322421.5:p.Phe34Ser
ENST00000397797.1:c.5T>C	ENSP00000380899.1:p.Phe2Ser
ENST00000472694.1:n.237T>C
ENST00000487791.1:n.70T>C
NM_000558.4:c.101T>C	NP_000549.1:p.Phe34Ser
NM_000558.5:c.101T>C MANE Select	NP_000549.1:p.Phe34Ser