Canonical Allele Identifier: CA393995005

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226794G>T (hg19) ; chr16:g.176795G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176795G>T , CM000678.2:g.176795G>T	GRCh38
NC_000016.9:g.226794G>T , CM000678.1:g.226794G>T	GRCh37
NC_000016.8:g.166794G>T	NCBI36
NG_000006.1:g.37658G>T
NG_059186.1:g.5145G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320868.9:c.79G>T MANE Select	ENSP00000322421.5:p.Ala27Ser
ENST00000397797.1:c.-2+33G>T	ENSP00000380899.1:n.-2+33G>T
ENST00000472694.1:n.98G>T
ENST00000487791.1:n.48G>T
NM_000558.4:c.79G>T	NP_000549.1:p.Ala27Ser
NM_000558.5:c.79G>T MANE Select	NP_000549.1:p.Ala27Ser