Canonical Allele Identifier: CA393995673
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177130-C-G
COSMIC: COSM3679228
MyVariant Identifiers: chr16:g.227129C>G (hg19) chr16:g.177130C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177130C>G , CM000678.2:g.177130C>G GRCh38
NC_000016.9:g.227129C>G , CM000678.1:g.227129C>G GRCh37
NC_000016.8:g.167129C>G NCBI36
NG_000006.1:g.37993C>G
NG_059186.1:g.5480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.297C>G MANE Select ENSP00000322421.5:p.Phe99Leu
ENST00000397797.1:c.201C>G ENSP00000380899.1:p.Phe67Leu
ENST00000472694.1:n.433C>G
ENST00000487791.1:n.266C>G
NM_000558.4:c.297C>G NP_000549.1:p.Phe99Leu
NM_000558.5:c.297C>G MANE Select NP_000549.1:p.Phe99Leu
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