Canonical Allele Identifier: CA393995519
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227092T>A (hg19) chr16:g.177093T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177093T>A , CM000678.2:g.177093T>A GRCh38
NC_000016.9:g.227092T>A , CM000678.1:g.227092T>A GRCh37
NC_000016.8:g.167092T>A NCBI36
NG_000006.1:g.37956T>A
NG_059186.1:g.5443T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.260T>A MANE Select ENSP00000322421.5:p.Leu87Gln
ENST00000397797.1:c.164T>A ENSP00000380899.1:p.Leu55Gln
ENST00000472694.1:n.396T>A
ENST00000487791.1:n.229T>A
NM_000558.4:c.260T>A NP_000549.1:p.Leu87Gln
NM_000558.5:c.260T>A MANE Select NP_000549.1:p.Leu87Gln
Search 100 bp 5'
Search 100 bp 3'