Canonical Allele Identifier: CA125909
Gene: HBA1 HGNC NCBI
ClinVar RCV:
RCV000017168
ClinVar Variation:
15825
dbSNP:
34849179
gnomAD v4:
chr16-177401-A-C
MyVariant.info:
GRCh38 chr16:g.177401A>C
GRCh37 chr16:g.227400A>C
Revel Score:
ENST00000320868 (MANE Select) 0.795
ENST00000397797 0.795
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177401A>C , CM000678.2:g.177401A>C GRCh38
NC_000016.9:g.227400A>C , CM000678.1:g.227400A>C GRCh37
NC_000016.8:g.167400A>C NCBI36
NG_000006.1:g.38264A>C
NG_059186.1:g.5751A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.419A>C MANE Select ENSP00000322421.5:p.Lys140Thr
ENST00000397797.1:c.323A>C ENSP00000380899.1:p.Lys108Thr
ENST00000472694.1:n.555A>C
NM_000558.4:c.419A>C NP_000549.1:p.Lys140Thr
NM_000558.5:c.419A>C MANE Select NP_000549.1:p.Lys140Thr
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