Canonical Allele Identifier: CA393995184
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177002-A-T
MyVariant Identifiers: chr16:g.227001A>T (hg19) chr16:g.177002A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177002A>T , CM000678.2:g.177002A>T GRCh38
NC_000016.9:g.227001A>T , CM000678.1:g.227001A>T GRCh37
NC_000016.8:g.167001A>T NCBI36
NG_000006.1:g.37865A>T
NG_059186.1:g.5352A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.169A>T MANE Select ENSP00000322421.5:p.Lys57Ter
ENST00000397797.1:c.73A>T ENSP00000380899.1:p.Lys25Ter
ENST00000472694.1:n.305A>T
ENST00000487791.1:n.138A>T
NM_000558.4:c.169A>T NP_000549.1:p.Lys57Ter
NM_000558.5:c.169A>T MANE Select NP_000549.1:p.Lys57Ter
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