Canonical Allele Identifier: CA718607127
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1244897433
gnomAD v3: 16-177225-C-T
gnomAD v4: 16-177225-C-T
MyVariant Identifiers: chr16:g.227224C>T (hg19) chr16:g.177225C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177225C>T , CM000678.2:g.177225C>T GRCh38
NC_000016.9:g.227224C>T , CM000678.1:g.227224C>T GRCh37
NC_000016.8:g.167224C>T NCBI36
NG_000006.1:g.38088C>T
NG_059186.1:g.5575C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.301-58C>T MANE Select ENSP00000322421.5:n.301-58C>T
ENST00000397797.1:c.205-58C>T ENSP00000380899.1:n.205-58C>T
ENST00000472694.1:n.437-58C>T
ENST00000487791.1:n.361C>T
NM_000558.4:c.301-58C>T NP_000549.1:n.301-58C>T
NM_000558.5:c.301-58C>T MANE Select NP_000549.1:n.301-58C>T
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