Canonical Allele Identifier: CA620161598
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1377786725
gnomAD v2: 16-226681-T-C
gnomAD v4: 16-176682-T-C
MyVariant Identifiers: chr16:g.226681T>C (hg19) chr16:g.176682T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176682T>C , CM000678.2:g.176682T>C GRCh38
NC_000016.9:g.226681T>C , CM000678.1:g.226681T>C GRCh37
NC_000016.8:g.166681T>C NCBI36
NG_000006.1:g.37545T>C
NG_059186.1:g.5032T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.-35T>C MANE Select ENSP00000322421.5:n.-35T>C
NM_000558.4:c.-35T>C NP_000549.1:n.-35T>C
NM_000558.5:c.-35T>C MANE Select NP_000549.1:n.-35T>C
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