Canonical Allele Identifier: CA393995669
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177129-T-C
MyVariant Identifiers: chr16:g.227128T>C (hg19) chr16:g.177129T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177129T>C , CM000678.2:g.177129T>C GRCh38
NC_000016.9:g.227128T>C , CM000678.1:g.227128T>C GRCh37
NC_000016.8:g.167128T>C NCBI36
NG_000006.1:g.37992T>C
NG_059186.1:g.5479T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.296T>C MANE Select ENSP00000322421.5:p.Phe99Ser
ENST00000397797.1:c.200T>C ENSP00000380899.1:p.Phe67Ser
ENST00000472694.1:n.432T>C
ENST00000487791.1:n.265T>C
NM_000558.4:c.296T>C NP_000549.1:p.Phe99Ser
NM_000558.5:c.296T>C MANE Select NP_000549.1:p.Phe99Ser
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