Canonical Allele Identifier: CA620161670
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1302712415
gnomAD v2: 16-227431-G-T
gnomAD v4: 16-177432-G-T
MyVariant Identifiers: chr16:g.227431_227434delinsTCTT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177432G>T , CM000678.2:g.177432G>T GRCh38
NC_000016.9:g.227431G>T , CM000678.1:g.227431G>T GRCh37
NC_000016.8:g.167431G>T NCBI36
NG_000006.1:g.38295G>T
NG_059186.1:g.5782G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.*21G>T MANE Select ENSP00000322421.5:n.*21G>T
ENST00000397797.1:c.*21G>T ENSP00000380899.1:n.*21G>T
ENST00000472694.1:n.586G>T
NM_000558.4:c.*21G>T NP_000549.1:n.*21G>T
NM_000558.5:c.*21G>T MANE Select NP_000549.1:n.*21G>T
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