Canonical Allele Identifier: CA393994969
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226768T>G (hg19) chr16:g.176769T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176769T>G , CM000678.2:g.176769T>G GRCh38
NC_000016.9:g.226768T>G , CM000678.1:g.226768T>G GRCh37
NC_000016.8:g.166768T>G NCBI36
NG_000006.1:g.37632T>G
NG_059186.1:g.5119T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.53T>G MANE Select ENSP00000322421.5:p.Val18Gly
ENST00000397797.1:c.-2+7T>G ENSP00000380899.1:n.-2+7T>G
ENST00000472694.1:n.72T>G
ENST00000487791.1:n.22T>G
NM_000558.4:c.53T>G NP_000549.1:p.Val18Gly
NM_000558.5:c.53T>G MANE Select NP_000549.1:p.Val18Gly
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Search 100 bp 3'