Canonical Allele Identifier: CA718682335
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs11864706
gnomAD v4: 16-177482-C-T
MyVariant Identifiers: chr16:g.227481C>T (hg19) chr16:g.177482C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177482C>T , CM000678.2:g.177482C>T GRCh38
NC_000016.9:g.227481C>T , CM000678.1:g.227481C>T GRCh37
NC_000016.8:g.167481C>T NCBI36
NG_000006.1:g.38345C>T
NG_059186.1:g.5832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.*71C>T MANE Select ENSP00000322421.5:n.*71C>T
ENST00000397797.1:c.*71C>T ENSP00000380899.1:n.*71C>T
ENST00000472694.1:n.636C>T
NM_000558.4:c.*71C>T NP_000549.1:n.*71C>T
NM_000558.5:c.*71C>T MANE Select NP_000549.1:n.*71C>T
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Search 100 bp 3'