Canonical Allele Identifier: CA276416578
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs63749791
gnomAD v3: 16-176804-C-G
gnomAD v4: 16-176804-C-G
MyVariant Identifiers: chr16:g.226803C>G (hg19) chr16:g.176804C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176804C>G , CM000678.2:g.176804C>G GRCh38
NC_000016.9:g.226803C>G , CM000678.1:g.226803C>G GRCh37
NC_000016.8:g.166803C>G NCBI36
NG_000006.1:g.37667C>G
NG_059186.1:g.5154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.88C>G MANE Select ENSP00000322421.5:p.Leu30Val
ENST00000397797.1:c.-2+42C>G ENSP00000380899.1:n.-2+42C>G
ENST00000472694.1:n.107C>G
ENST00000487791.1:n.57C>G
NM_000558.4:c.88C>G NP_000549.1:p.Leu30Val
NM_000558.5:c.88C>G MANE Select NP_000549.1:p.Leu30Val
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