Canonical Allele Identifier: CA718607122
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1419022358
gnomAD v3: 16-177208-G-C
gnomAD v4: 16-177208-G-C
MyVariant Identifiers: chr16:g.227207G>C (hg19) chr16:g.177208G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177208G>C , CM000678.2:g.177208G>C GRCh38
NC_000016.9:g.227207G>C , CM000678.1:g.227207G>C GRCh37
NC_000016.8:g.167207G>C NCBI36
NG_000006.1:g.38071G>C
NG_059186.1:g.5558G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.301-75G>C MANE Select ENSP00000322421.5:n.301-75G>C
ENST00000397797.1:c.205-75G>C ENSP00000380899.1:n.205-75G>C
ENST00000472694.1:n.437-75G>C
ENST00000487791.1:n.344G>C
NM_000558.4:c.301-75G>C NP_000549.1:n.301-75G>C
NM_000558.5:c.301-75G>C MANE Select NP_000549.1:n.301-75G>C
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