Canonical Allele Identifier: CA6831154
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs199633532
ExAC: 12:121176678 G / C
gnomAD v2: 12-121176678-G-C
gnomAD v4: 12-120738875-G-C
MyVariant Identifiers: chr12:g.121176678G>C (hg19) chr12:g.120738875G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738875G>C , CM000674.2:g.120738875G>C GRCh38
NC_000012.11:g.121176678G>C , CM000674.1:g.121176678G>C GRCh37
NC_000012.10:g.119661061G>C NCBI36
NG_007991.1:g.18108G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.989G>C MANE Select ENSP00000242592.4:p.Arg330Pro
ENST00000242592.8:c.989G>C ENSP00000242592.4:p.Arg330Pro
ENST00000411593.2:c.977G>C ENSP00000401045.2:p.Arg326Pro
NM_000017.3:c.989G>C NP_000008.1:p.Arg330Pro
NM_001302554.1:c.977G>C NP_001289483.1:p.Arg326Pro
NM_000017.4:c.989G>C MANE Select NP_000008.1:p.Arg330Pro
NM_001302554.2:c.977G>C NP_001289483.1:p.Arg326Pro
Search 100 bp 5'
Search 100 bp 3'