Canonical Allele Identifier: CA492994658
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177097-C-T
MyVariant Identifiers: chr16:g.227096C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177097C>T , CM000678.2:g.177097C>T GRCh38
NC_000016.9:g.227096C>T , CM000678.1:g.227096C>T GRCh37
NC_000016.8:g.167096C>T NCBI36
NG_000006.1:g.37960C>T
NG_059186.1:g.5447C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.264C>T MANE Select ENSP00000322421.5:p.His88=
ENST00000397797.1:c.168C>T ENSP00000380899.1:p.His56=
ENST00000472694.1:n.400C>T
ENST00000487791.1:n.233C>T
NM_000558.4:c.264C>T NP_000549.1:p.His88=
NM_000558.5:c.264C>T MANE Select NP_000549.1:p.His88=