Canonical Allele Identifier: CA492786666
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1397476965
gnomAD v2: 16-226721-G-T
gnomAD v4: 16-176722-G-T
MyVariant Identifiers: chr16:g.226721G>T (hg19) chr16:g.176722G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176722G>T , CM000678.2:g.176722G>T GRCh38
NC_000016.9:g.226721G>T , CM000678.1:g.226721G>T GRCh37
NC_000016.8:g.166721G>T NCBI36
NG_000006.1:g.37585G>T
NG_059186.1:g.5072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.6G>T MANE Select ENSP00000322421.5:p.Val2=
ENST00000397797.1:c.-42G>T ENSP00000380899.1:n.-42G>T
ENST00000472694.1:n.25G>T
NM_000558.4:c.6G>T NP_000549.1:p.Val2=
NM_000558.5:c.6G>T MANE Select NP_000549.1:p.Val2=
Search 100 bp 5'
Search 100 bp 3'