Canonical Allele Identifier: CA718607128
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1201769588
gnomAD v3: 16-177226-G-C
gnomAD v4: 16-177226-G-C
MyVariant Identifiers: chr16:g.227225G>C (hg19) chr16:g.177226G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177226G>C , CM000678.2:g.177226G>C GRCh38
NC_000016.9:g.227225G>C , CM000678.1:g.227225G>C GRCh37
NC_000016.8:g.167225G>C NCBI36
NG_000006.1:g.38089G>C
NG_059186.1:g.5576G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.301-57G>C MANE Select ENSP00000322421.5:n.301-57G>C
ENST00000397797.1:c.205-57G>C ENSP00000380899.1:n.205-57G>C
ENST00000472694.1:n.437-57G>C
ENST00000487791.1:n.362G>C
NM_000558.4:c.301-57G>C NP_000549.1:n.301-57G>C
NM_000558.5:c.301-57G>C MANE Select NP_000549.1:n.301-57G>C
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