Canonical Allele Identifier: CA393995176
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226999T>A (hg19) chr16:g.177000T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177000T>A , CM000678.2:g.177000T>A GRCh38
NC_000016.9:g.226999T>A , CM000678.1:g.226999T>A GRCh37
NC_000016.8:g.166999T>A NCBI36
NG_000006.1:g.37863T>A
NG_059186.1:g.5350T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.167T>A MANE Select ENSP00000322421.5:p.Val56Asp
ENST00000397797.1:c.71T>A ENSP00000380899.1:p.Val24Asp
ENST00000472694.1:n.303T>A
ENST00000487791.1:n.136T>A
NM_000558.4:c.167T>A NP_000549.1:p.Val56Asp
NM_000558.5:c.167T>A MANE Select NP_000549.1:p.Val56Asp
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