Canonical Allele Identifier: CA620161631
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1474301181
gnomAD v2: 16-226860-C-T
gnomAD v4: 16-176861-C-T
MyVariant Identifiers: chr16:g.226860C>T (hg19) chr16:g.176861C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176861C>T , CM000678.2:g.176861C>T GRCh38
NC_000016.9:g.226860C>T , CM000678.1:g.226860C>T GRCh37
NC_000016.8:g.166860C>T NCBI36
NG_000006.1:g.37724C>T
NG_059186.1:g.5211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.95+50C>T MANE Select ENSP00000322421.5:n.95+50C>T
ENST00000397797.1:c.-1-68C>T ENSP00000380899.1:n.-1-68C>T
ENST00000472694.1:n.164C>T
ENST00000487791.1:n.64+50C>T
NM_000558.4:c.95+50C>T NP_000549.1:n.95+50C>T
NM_000558.5:c.95+50C>T MANE Select NP_000549.1:n.95+50C>T
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