Canonical Allele Identifier: CA125678
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177397T>C
GRCh37 chr16:g.227396T>C
Revel Score:
ENST00000320868 (MANE Select) 0.628
ENST00000397797 0.628
ClinVar RCV:
RCV000016993
ClinVar Variation:
15701
dbSNP:
34011123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177397T>C , CM000678.2:g.177397T>C GRCh38
NC_000016.9:g.227396T>C , CM000678.1:g.227396T>C GRCh37
NC_000016.8:g.167396T>C NCBI36
NG_000006.1:g.38260T>C
NG_059186.1:g.5747T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.415T>C MANE Select ENSP00000322421.5:p.Ser139Pro
ENST00000397797.1:c.319T>C ENSP00000380899.1:p.Ser107Pro
ENST00000472694.1:n.551T>C
NM_000558.4:c.415T>C NP_000549.1:p.Ser139Pro
NM_000558.5:c.415T>C MANE Select NP_000549.1:p.Ser139Pro
Search 100 bp 5'
Search 100 bp 3'