Canonical Allele Identifier: CA276416515
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs33939620
gnomAD v3: 16-176786-G-T
gnomAD v4: 16-176786-G-T
MyVariant Identifiers: chr16:g.226785G>T (hg19) chr16:g.176786G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176786G>T , CM000678.2:g.176786G>T GRCh38
NC_000016.9:g.226785G>T , CM000678.1:g.226785G>T GRCh37
NC_000016.8:g.166785G>T NCBI36
NG_000006.1:g.37649G>T
NG_059186.1:g.5136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.70G>T MANE Select ENSP00000322421.5:p.Glu24Ter
ENST00000397797.1:c.-2+24G>T ENSP00000380899.1:n.-2+24G>T
ENST00000472694.1:n.89G>T
ENST00000487791.1:n.39G>T
NM_000558.4:c.70G>T NP_000549.1:p.Glu24Ter
NM_000558.5:c.70G>T MANE Select NP_000549.1:p.Glu24Ter
Search 100 bp 5'
Search 100 bp 3'