Canonical Allele Identifier: CA393995142
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176991-C-T
MyVariant Identifiers: chr16:g.226990C>T (hg19) chr16:g.176991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176991C>T , CM000678.2:g.176991C>T GRCh38
NC_000016.9:g.226990C>T , CM000678.1:g.226990C>T GRCh37
NC_000016.8:g.166990C>T NCBI36
NG_000006.1:g.37854C>T
NG_059186.1:g.5341C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.158C>T MANE Select ENSP00000322421.5:p.Ser53Phe
ENST00000397797.1:c.62C>T ENSP00000380899.1:p.Ser21Phe
ENST00000472694.1:n.294C>T
ENST00000487791.1:n.127C>T
NM_000558.4:c.158C>T NP_000549.1:p.Ser53Phe
NM_000558.5:c.158C>T MANE Select NP_000549.1:p.Ser53Phe
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