Canonical Allele Identifier: CA393995161
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226996A>C (hg19) chr16:g.176997A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176997A>C , CM000678.2:g.176997A>C GRCh38
NC_000016.9:g.226996A>C , CM000678.1:g.226996A>C GRCh37
NC_000016.8:g.166996A>C NCBI36
NG_000006.1:g.37860A>C
NG_059186.1:g.5347A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.164A>C MANE Select ENSP00000322421.5:p.Gln55Pro
ENST00000397797.1:c.68A>C ENSP00000380899.1:p.Gln23Pro
ENST00000472694.1:n.300A>C
ENST00000487791.1:n.133A>C
NM_000558.4:c.164A>C NP_000549.1:p.Gln55Pro
NM_000558.5:c.164A>C MANE Select NP_000549.1:p.Gln55Pro
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Search 100 bp 3'