Canonical Allele Identifier: CA684419608
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1457667577
gnomAD v3: 12-120739674-T-C
gnomAD v4: 12-120739674-T-C
MyVariant Identifiers: chr12:g.121177477T>C (hg19) chr12:g.120739674T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739674T>C , CM000674.2:g.120739674T>C GRCh38
NC_000012.11:g.121177477T>C , CM000674.1:g.121177477T>C GRCh37
NC_000012.10:g.119661860T>C NCBI36
NG_007991.1:g.18907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*226T>C MANE Select ENSP00000242592.4:n.*226T>C
ENST00000242592.8:c.*226T>C ENSP00000242592.4:n.*226T>C
NM_000017.3:c.*226T>C NP_000008.1:n.*226T>C
NM_001302554.1:c.*226T>C NP_001289483.1:n.*226T>C
NM_000017.4:c.*226T>C MANE Select NP_000008.1:n.*226T>C
NM_001302554.2:c.*226T>C NP_001289483.1:n.*226T>C
Search 100 bp 5'
Search 100 bp 3'