Canonical Allele Identifier: CA16040877
Gene: HADHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371204
ClinVar RCV Id: RCV000412311
dbSNP Id: rs1057517087

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204080del , CM000664.2:g.26204080del GRCh38
NC_000002.11:g.26426949del , CM000664.1:g.26426949del GRCh37
NC_000002.10:g.26280453del NCBI36
NG_007121.1:g.45541del

Transcript Alleles

HGVS Amino-acid change
NM_000182.4:c.1202del VV NP_000173.2:p.Gln401ArgfsTer8
NM_000182.5:c.1202del VV MANE Preferred
ENST00000380649.7:c.1202del ENSP00000370023.3:p.Gln401ArgfsTer8