Canonical Allele Identifier: CA125719
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.177086A>C
GRCh37 chr16:g.227085A>C
Revel Score:
ENST00000320868 (MANE Select) 0.867
ENST00000397797 0.867
ClinVar RCV:
RCV000017017
ClinVar Variation:
15723
dbSNP:
33926206
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177086A>C , CM000678.2:g.177086A>C GRCh38
NC_000016.9:g.227085A>C , CM000678.1:g.227085A>C GRCh37
NC_000016.8:g.167085A>C NCBI36
NG_000006.1:g.37949A>C
NG_059186.1:g.5436A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.253A>C MANE Select ENSP00000322421.5:p.Ser85Arg
ENST00000397797.1:c.157A>C ENSP00000380899.1:p.Ser53Arg
ENST00000472694.1:n.389A>C
ENST00000487791.1:n.222A>C
NM_000558.4:c.253A>C NP_000549.1:p.Ser85Arg
NM_000558.5:c.253A>C MANE Select NP_000549.1:p.Ser85Arg
Search 100 bp 5'
Search 100 bp 3'