Canonical Allele Identifier: CA6830829
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1434767
ClinVar RCV Id: RCV001962530 RCV003407978
dbSNP Id: rs781528570
ExAC: 12:121174915 G / A
gnomAD v2: 12-121174915-G-A
gnomAD v4: 12-120737112-G-A
COSMIC: COSM3457071
MyVariant Identifiers: chr12:g.121174915G>A (hg19) chr12:g.120737112G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737112G>A , CM000674.2:g.120737112G>A GRCh38
NC_000012.11:g.121174915G>A , CM000674.1:g.121174915G>A GRCh37
NC_000012.10:g.119659298G>A NCBI36
NG_007991.1:g.16345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.337G>A MANE Select ENSP00000242592.4:p.Gly113Arg
ENST00000242592.8:c.337G>A ENSP00000242592.4:p.Gly113Arg
ENST00000411593.2:c.337G>A ENSP00000401045.2:p.Gly113Arg
ENST00000539690.1:n.449G>A
NM_000017.3:c.337G>A NP_000008.1:p.Gly113Arg
NM_001302554.1:c.337G>A NP_001289483.1:p.Gly113Arg
NM_000017.4:c.337G>A MANE Select NP_000008.1:p.Gly113Arg
NM_001302554.2:c.337G>A NP_001289483.1:p.Gly113Arg
Search 100 bp 5'
Search 100 bp 3'