Canonical Allele Identifier: CA620161683
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1190061123
gnomAD v2: 16-227459-C-G
gnomAD v3: 16-177460-C-G
gnomAD v4: 16-177460-C-G
MyVariant Identifiers: chr16:g.227459C>G (hg19) chr16:g.177460C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177460C>G , CM000678.2:g.177460C>G GRCh38
NC_000016.9:g.227459C>G , CM000678.1:g.227459C>G GRCh37
NC_000016.8:g.167459C>G NCBI36
NG_000006.1:g.38323C>G
NG_059186.1:g.5810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*49C>G MANE Select ENSP00000322421.5:n.*49C>G
ENST00000397797.1:c.*49C>G ENSP00000380899.1:n.*49C>G
ENST00000472694.1:n.614C>G
NM_000558.4:c.*49C>G NP_000549.1:n.*49C>G
NM_000558.5:c.*49C>G MANE Select NP_000549.1:n.*49C>G
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