Canonical Allele Identifier: CA393995533
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1809522
ClinVar RCV Id: RCV002481101
dbSNP Id: rs1318210119
gnomAD v2: 16-227096-C-G
gnomAD v4: 16-177097-C-G
MyVariant Identifiers: chr16:g.227096C>G (hg19) chr16:g.177097C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177097C>G , CM000678.2:g.177097C>G GRCh38
NC_000016.9:g.227096C>G , CM000678.1:g.227096C>G GRCh37
NC_000016.8:g.167096C>G NCBI36
NG_000006.1:g.37960C>G
NG_059186.1:g.5447C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.264C>G MANE Select ENSP00000322421.5:p.His88Gln
ENST00000397797.1:c.168C>G ENSP00000380899.1:p.His56Gln
ENST00000472694.1:n.400C>G
ENST00000487791.1:n.233C>G
NM_000558.4:c.264C>G NP_000549.1:p.His88Gln
NM_000558.5:c.264C>G MANE Select NP_000549.1:p.His88Gln
Search 100 bp 5'
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