Canonical Allele Identifier: CA620304265
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1263871854
gnomAD v2: 16-227206-G-A
gnomAD v3: 16-177207-G-A
gnomAD v4: 16-177207-G-A
MyVariant Identifiers: chr16:g.227206G>A (hg19) chr16:g.177207G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177207G>A , CM000678.2:g.177207G>A GRCh38
NC_000016.9:g.227206G>A , CM000678.1:g.227206G>A GRCh37
NC_000016.8:g.167206G>A NCBI36
NG_000006.1:g.38070G>A
NG_059186.1:g.5557G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.300+74G>A MANE Select ENSP00000322421.5:n.300+74G>A
ENST00000397797.1:c.204+74G>A ENSP00000380899.1:n.204+74G>A
ENST00000472694.1:n.436+74G>A
ENST00000487791.1:n.343G>A
NM_000558.4:c.300+74G>A NP_000549.1:n.300+74G>A
NM_000558.5:c.300+74G>A MANE Select NP_000549.1:n.300+74G>A
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