Canonical Allele Identifier: CA276416736
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176975G>C
GRCh37 chr16:g.226974G>C
Revel Score:
ENST00000320868 (MANE Select) 0.753
ENST00000397797 0.753
ClinVar RCV:
RCV003332004
ClinVar Variation:
2581599
dbSNP:
34269448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176975G>C , CM000678.2:g.176975G>C GRCh38
NC_000016.9:g.226974G>C , CM000678.1:g.226974G>C GRCh37
NC_000016.8:g.166974G>C NCBI36
NG_000006.1:g.37838G>C
NG_059186.1:g.5325G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.142G>C MANE Select ENSP00000322421.5:p.Asp48His
ENST00000397797.1:c.46G>C ENSP00000380899.1:p.Asp16His
ENST00000472694.1:n.278G>C
ENST00000487791.1:n.111G>C
NM_000558.4:c.142G>C NP_000549.1:p.Asp48His
NM_000558.5:c.142G>C MANE Select NP_000549.1:p.Asp48His
Search 100 bp 5'
Search 100 bp 3'