Canonical Allele Identifier: CA393995252
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227019G>A (hg19) chr16:g.177020G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177020G>A , CM000678.2:g.177020G>A GRCh38
NC_000016.9:g.227019G>A , CM000678.1:g.227019G>A GRCh37
NC_000016.8:g.167019G>A NCBI36
NG_000006.1:g.37883G>A
NG_059186.1:g.5370G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.187G>A MANE Select ENSP00000322421.5:p.Val63Met
ENST00000397797.1:c.91G>A ENSP00000380899.1:p.Val31Met
ENST00000472694.1:n.323G>A
ENST00000487791.1:n.156G>A
NM_000558.4:c.187G>A NP_000549.1:p.Val63Met
NM_000558.5:c.187G>A MANE Select NP_000549.1:p.Val63Met
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