Canonical Allele Identifier: CA393995141
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226989T>G (hg19) chr16:g.176990T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176990T>G , CM000678.2:g.176990T>G GRCh38
NC_000016.9:g.226989T>G , CM000678.1:g.226989T>G GRCh37
NC_000016.8:g.166989T>G NCBI36
NG_000006.1:g.37853T>G
NG_059186.1:g.5340T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.157T>G MANE Select ENSP00000322421.5:p.Ser53Ala
ENST00000397797.1:c.61T>G ENSP00000380899.1:p.Ser21Ala
ENST00000472694.1:n.293T>G
ENST00000487791.1:n.126T>G
NM_000558.4:c.157T>G NP_000549.1:p.Ser53Ala
NM_000558.5:c.157T>G MANE Select NP_000549.1:p.Ser53Ala
Search 100 bp 5'
Search 100 bp 3'