Canonical Allele Identifier: CA2200882947
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1166327040
gnomAD v4: 16-176890-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176890G>C , CM000678.2:g.176890G>C GRCh38
NC_000016.9:g.226889G>C , CM000678.1:g.226889G>C GRCh37
NC_000016.8:g.166889G>C NCBI36
NG_000006.1:g.37753G>C
NG_059186.1:g.5240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-39G>C MANE Select ENSP00000322421.5:n.96-39G>C
ENST00000397797.1:c.-1-39G>C ENSP00000380899.1:n.-1-39G>C
ENST00000472694.1:n.193G>C
ENST00000487791.1:n.65-39G>C
NM_000558.4:c.96-39G>C NP_000549.1:n.96-39G>C
NM_000558.5:c.96-39G>C MANE Select NP_000549.1:n.96-39G>C
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