Canonical Allele Identifier: CA6831173
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1191695
ClinVar RCV Id: RCV001552873
dbSNP Id: rs12315099
ExAC: 12:121176754 G / A
gnomAD v2: 12-121176754-G-A
gnomAD v3: 12-120738951-G-A
gnomAD v4: 12-120738951-G-A
MyVariant Identifiers: chr12:g.121176754G>A (hg19) chr12:g.120738951G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738951G>A , CM000674.2:g.120738951G>A GRCh38
NC_000012.11:g.121176754G>A , CM000674.1:g.121176754G>A GRCh37
NC_000012.10:g.119661137G>A NCBI36
NG_007991.1:g.18184G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1029+36G>A MANE Select ENSP00000242592.4:n.1029+36G>A
ENST00000242592.8:c.1029+36G>A ENSP00000242592.4:n.1029+36G>A
ENST00000411593.2:c.1017+36G>A ENSP00000401045.2:n.1017+36G>A
NM_000017.3:c.1029+36G>A NP_000008.1:n.1029+36G>A
NM_001302554.1:c.1017+36G>A NP_001289483.1:n.1017+36G>A
NM_000017.4:c.1029+36G>A MANE Select NP_000008.1:n.1029+36G>A
NM_001302554.2:c.1017+36G>A NP_001289483.1:n.1017+36G>A
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