Canonical Allele Identifier: CA393995179
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226999T>G (hg19) chr16:g.177000T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177000T>G , CM000678.2:g.177000T>G GRCh38
NC_000016.9:g.226999T>G , CM000678.1:g.226999T>G GRCh37
NC_000016.8:g.166999T>G NCBI36
NG_000006.1:g.37863T>G
NG_059186.1:g.5350T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.167T>G MANE Select ENSP00000322421.5:p.Val56Gly
ENST00000397797.1:c.71T>G ENSP00000380899.1:p.Val24Gly
ENST00000472694.1:n.303T>G
ENST00000487791.1:n.136T>G
NM_000558.4:c.167T>G NP_000549.1:p.Val56Gly
NM_000558.5:c.167T>G MANE Select NP_000549.1:p.Val56Gly
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