Canonical Allele Identifier: CA125797
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176732G>C
GRCh37 chr16:g.226731G>C
Revel Score:
ENST00000320868 (MANE Select) 0.592
ClinVar RCV:
RCV000017078
ClinVar Variation:
15767
dbSNP:
34751764
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176732G>C , CM000678.2:g.176732G>C GRCh38
NC_000016.9:g.226731G>C , CM000678.1:g.226731G>C GRCh37
NC_000016.8:g.166731G>C NCBI36
NG_000006.1:g.37595G>C
NG_059186.1:g.5082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.16G>C MANE Select ENSP00000322421.5:p.Ala6Pro
ENST00000397797.1:c.-32G>C ENSP00000380899.1:n.-32G>C
ENST00000472694.1:n.35G>C
NM_000558.4:c.16G>C NP_000549.1:p.Ala6Pro
NM_000558.5:c.16G>C MANE Select NP_000549.1:p.Ala6Pro
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