Canonical Allele Identifier: CA492994388
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227305G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177306G>T , CM000678.2:g.177306G>T GRCh38
NC_000016.9:g.227305G>T , CM000678.1:g.227305G>T GRCh37
NC_000016.8:g.167305G>T NCBI36
NG_000006.1:g.38169G>T
NG_059186.1:g.5656G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.324G>T MANE Select ENSP00000322421.5:p.Val108=
ENST00000397797.1:c.228G>T ENSP00000380899.1:p.Val76=
ENST00000472694.1:n.460G>T
NM_000558.4:c.324G>T NP_000549.1:p.Val108=
NM_000558.5:c.324G>T MANE Select NP_000549.1:p.Val108=