Canonical Allele Identifier: CA393995158
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v3: 16-176996-C-T
gnomAD v4: 16-176996-C-T
MyVariant Identifiers: chr16:g.226995C>T (hg19) chr16:g.176996C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176996C>T , CM000678.2:g.176996C>T GRCh38
NC_000016.9:g.226995C>T , CM000678.1:g.226995C>T GRCh37
NC_000016.8:g.166995C>T NCBI36
NG_000006.1:g.37859C>T
NG_059186.1:g.5346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.163C>T MANE Select ENSP00000322421.5:p.Gln55Ter
ENST00000397797.1:c.67C>T ENSP00000380899.1:p.Gln23Ter
ENST00000472694.1:n.299C>T
ENST00000487791.1:n.132C>T
NM_000558.4:c.163C>T NP_000549.1:p.Gln55Ter
NM_000558.5:c.163C>T MANE Select NP_000549.1:p.Gln55Ter
Search 100 bp 5'
Search 100 bp 3'