Canonical Allele Identifier: CA718606262
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1364531540
gnomAD v3: 16-176875-A-C
gnomAD v4: 16-176875-A-C
MyVariant Identifiers: chr16:g.226874A>C (hg19) chr16:g.176875A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176875A>C , CM000678.2:g.176875A>C GRCh38
NC_000016.9:g.226874A>C , CM000678.1:g.226874A>C GRCh37
NC_000016.8:g.166874A>C NCBI36
NG_000006.1:g.37738A>C
NG_059186.1:g.5225A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-54A>C MANE Select ENSP00000322421.5:n.96-54A>C
ENST00000397797.1:c.-1-54A>C ENSP00000380899.1:n.-1-54A>C
ENST00000472694.1:n.178A>C
ENST00000487791.1:n.65-54A>C
NM_000558.4:c.96-54A>C NP_000549.1:n.96-54A>C
NM_000558.5:c.96-54A>C MANE Select NP_000549.1:n.96-54A>C
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