Canonical Allele Identifier: CA7770283
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811900
ClinVar RCV Id: RCV001027960
dbSNP Id: rs63750751
ExAC: 16:227339 C / T
gnomAD v2: 16-227339-C-T
gnomAD v3: 16-177340-C-T
gnomAD v4: 16-177340-C-T
MyVariant Identifiers: chr16:g.227339C>T (hg19) chr16:g.177340C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177340C>T , CM000678.2:g.177340C>T GRCh38
NC_000016.9:g.227339C>T , CM000678.1:g.227339C>T GRCh37
NC_000016.8:g.167339C>T NCBI36
NG_000006.1:g.38203C>T
NG_059186.1:g.5690C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.358C>T MANE Select ENSP00000322421.5:p.Pro120Ser
ENST00000397797.1:c.262C>T ENSP00000380899.1:p.Pro88Ser
ENST00000472694.1:n.494C>T
NM_000558.4:c.358C>T NP_000549.1:p.Pro120Ser
NM_000558.5:c.358C>T MANE Select NP_000549.1:p.Pro120Ser
Search 100 bp 5'
Search 100 bp 3'