Canonical Allele Identifier: CA386601883
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 882405
ClinVar RCV Id: RCV001112073
dbSNP Id: rs35233375
MyVariant Identifiers: chr12:g.121177160G>T (hg19) chr12:g.120739357G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739357G>T , CM000674.2:g.120739357G>T GRCh38
NC_000012.11:g.121177160G>T , CM000674.1:g.121177160G>T GRCh37
NC_000012.10:g.119661543G>T NCBI36
NG_007991.1:g.18590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1148G>T MANE Select ENSP00000242592.4:p.Arg383Leu
ENST00000242592.8:c.1148G>T ENSP00000242592.4:p.Arg383Leu
ENST00000411593.2:c.1136G>T ENSP00000401045.2:p.Arg379Leu
NM_000017.3:c.1148G>T NP_000008.1:p.Arg383Leu
NM_001302554.1:c.1136G>T NP_001289483.1:p.Arg379Leu
NM_000017.4:c.1148G>T MANE Select NP_000008.1:p.Arg383Leu
NM_001302554.2:c.1136G>T NP_001289483.1:p.Arg379Leu
Search 100 bp 5'
Search 100 bp 3'