Canonical Allele Identifier: CA393995226
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681958
ClinVar RCV Id: RCV003477250
MyVariant Identifiers: chr16:g.227013A>C (hg19) chr16:g.177014A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177014A>C , CM000678.2:g.177014A>C GRCh38
NC_000016.9:g.227013A>C , CM000678.1:g.227013A>C GRCh37
NC_000016.8:g.167013A>C NCBI36
NG_000006.1:g.37877A>C
NG_059186.1:g.5364A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.181A>C MANE Select ENSP00000322421.5:p.Lys61Gln
ENST00000397797.1:c.85A>C ENSP00000380899.1:p.Lys29Gln
ENST00000472694.1:n.317A>C
ENST00000487791.1:n.150A>C
NM_000558.4:c.181A>C NP_000549.1:p.Lys61Gln
NM_000558.5:c.181A>C MANE Select NP_000549.1:p.Lys61Gln
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Search 100 bp 3'