Canonical Allele Identifier: CA492994639
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs33996798
gnomAD v2: 16-227087-C-T
gnomAD v4: 16-177088-C-T
MyVariant Identifiers: chr16:g.227087C>T (hg19) chr16:g.177088C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177088C>T , CM000678.2:g.177088C>T GRCh38
NC_000016.9:g.227087C>T , CM000678.1:g.227087C>T GRCh37
NC_000016.8:g.167087C>T NCBI36
NG_000006.1:g.37951C>T
NG_059186.1:g.5438C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.255C>T MANE Select ENSP00000322421.5:p.Ser85=
ENST00000397797.1:c.159C>T ENSP00000380899.1:p.Ser53=
ENST00000472694.1:n.391C>T
ENST00000487791.1:n.224C>T
NM_000558.4:c.255C>T NP_000549.1:p.Ser85=
NM_000558.5:c.255C>T MANE Select NP_000549.1:p.Ser85=
Search 100 bp 5'
Search 100 bp 3'