Canonical Allele Identifier: CA393995672
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1902162553
gnomAD v4: 16-177130-C-A
MyVariant Identifiers: chr16:g.227129C>A (hg19) chr16:g.177130C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177130C>A , CM000678.2:g.177130C>A GRCh38
NC_000016.9:g.227129C>A , CM000678.1:g.227129C>A GRCh37
NC_000016.8:g.167129C>A NCBI36
NG_000006.1:g.37993C>A
NG_059186.1:g.5480C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.297C>A MANE Select ENSP00000322421.5:p.Phe99Leu
ENST00000397797.1:c.201C>A ENSP00000380899.1:p.Phe67Leu
ENST00000472694.1:n.433C>A
ENST00000487791.1:n.266C>A
NM_000558.4:c.297C>A NP_000549.1:p.Phe99Leu
NM_000558.5:c.297C>A MANE Select NP_000549.1:p.Phe99Leu
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