Canonical Allele Identifier: CA620304264
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1215605422
gnomAD v2: 16-227201-C-T
gnomAD v3: 16-177202-C-T
gnomAD v4: 16-177202-C-T
MyVariant Identifiers: chr16:g.227201C>T (hg19) chr16:g.177202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177202C>T , CM000678.2:g.177202C>T GRCh38
NC_000016.9:g.227201C>T , CM000678.1:g.227201C>T GRCh37
NC_000016.8:g.167201C>T NCBI36
NG_000006.1:g.38065C>T
NG_059186.1:g.5552C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.300+69C>T MANE Select ENSP00000322421.5:n.300+69C>T
ENST00000397797.1:c.204+69C>T ENSP00000380899.1:n.204+69C>T
ENST00000472694.1:n.436+69C>T
ENST00000487791.1:n.338C>T
NM_000558.4:c.300+69C>T NP_000549.1:n.300+69C>T
NM_000558.5:c.300+69C>T MANE Select NP_000549.1:n.300+69C>T
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