Canonical Allele Identifier: CA393995181
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227001A>C (hg19) chr16:g.177002A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.169A>C MANE Select ENSP00000322421.5:p.Lys57Gln
ENST00000397797.1:c.73A>C ENSP00000380899.1:p.Lys25Gln
ENST00000472694.1:n.305A>C
ENST00000487791.1:n.138A>C
NM_000558.4:c.169A>C NP_000549.1:p.Lys57Gln
NM_000558.5:c.169A>C MANE Select NP_000549.1:p.Lys57Gln
Search 100 bp 5'
Search 100 bp 3'