Canonical Allele Identifier: CA244521667
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 835731
ClinVar RCV Id: RCV001036681
dbSNP Id: rs1018117461
gnomAD v3: 12-120737136-G-A
gnomAD v4: 12-120737136-G-A
MyVariant Identifiers: chr12:g.121174939G>A (hg19) chr12:g.120737136G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737136G>A , CM000674.2:g.120737136G>A GRCh38
NC_000012.11:g.121174939G>A , CM000674.1:g.121174939G>A GRCh37
NC_000012.10:g.119659322G>A NCBI36
NG_007991.1:g.16369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.360+1G>A MANE Select ENSP00000242592.4:n.360+1G>A
ENST00000242592.8:c.360+1G>A ENSP00000242592.4:n.360+1G>A
ENST00000411593.2:c.360+1G>A ENSP00000401045.2:n.360+1G>A
ENST00000539690.1:n.473G>A
NM_000017.3:c.360+1G>A NP_000008.1:n.360+1G>A
NM_001302554.1:c.360+1G>A NP_001289483.1:n.360+1G>A
NM_000017.4:c.360+1G>A MANE Select NP_000008.1:n.360+1G>A
NM_001302554.2:c.360+1G>A NP_001289483.1:n.360+1G>A
Search 100 bp 5'
Search 100 bp 3'