Canonical Allele Identifier: CA2200882945
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1475220036
gnomAD v4: 16-176889-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176889C>G , CM000678.2:g.176889C>G GRCh38
NC_000016.9:g.226888C>G , CM000678.1:g.226888C>G GRCh37
NC_000016.8:g.166888C>G NCBI36
NG_000006.1:g.37752C>G
NG_059186.1:g.5239C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.96-40C>G MANE Select ENSP00000322421.5:n.96-40C>G
ENST00000397797.1:c.-1-40C>G ENSP00000380899.1:n.-1-40C>G
ENST00000472694.1:n.192C>G
ENST00000487791.1:n.65-40C>G
NM_000558.4:c.96-40C>G NP_000549.1:n.96-40C>G
NM_000558.5:c.96-40C>G MANE Select NP_000549.1:n.96-40C>G
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