Canonical Allele Identifier: CA718607112
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1172877213
gnomAD v3: 16-177204-C-T
gnomAD v4: 16-177204-C-T
MyVariant Identifiers: chr16:g.227203C>T (hg19) chr16:g.177204C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177204C>T , CM000678.2:g.177204C>T GRCh38
NC_000016.9:g.227203C>T , CM000678.1:g.227203C>T GRCh37
NC_000016.8:g.167203C>T NCBI36
NG_000006.1:g.38067C>T
NG_059186.1:g.5554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.300+71C>T MANE Select ENSP00000322421.5:n.300+71C>T
ENST00000397797.1:c.204+71C>T ENSP00000380899.1:n.204+71C>T
ENST00000472694.1:n.436+71C>T
ENST00000487791.1:n.340C>T
NM_000558.4:c.300+71C>T NP_000549.1:n.300+71C>T
NM_000558.5:c.300+71C>T MANE Select NP_000549.1:n.300+71C>T
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