Canonical Allele Identifier: CA6831069

Gene: ACADS

Linked Data

• ClinVar Variation Id: 307440
• ClinVar RCV Id: RCV000401044 ; RCV000437512
• dbSNP Id: rs201420791
• ExAC: 12:121176322 G / C
• gnomAD v2: 12-121176322-G-C
• gnomAD v3: 12-120738519-G-C
• gnomAD v4: 12-120738519-G-C
• MyVariant Identifiers: chr12:g.121176322G>C (hg19) ; chr12:g.120738519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738519G>C , CM000674.2:g.120738519G>C	GRCh38
NC_000012.11:g.121176322G>C , CM000674.1:g.121176322G>C	GRCh37
NC_000012.10:g.119660705G>C	NCBI36
NG_007991.1:g.17752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.796-14G>C MANE Select	ENSP00000242592.4:n.796-14G>C
ENST00000242592.8:c.796-14G>C	ENSP00000242592.4:n.796-14G>C
ENST00000411593.2:c.784-14G>C	ENSP00000401045.2:n.784-14G>C
NM_000017.3:c.796-14G>C	NP_000008.1:n.796-14G>C
NM_001302554.1:c.784-14G>C	NP_001289483.1:n.784-14G>C
NM_000017.4:c.796-14G>C MANE Select	NP_000008.1:n.796-14G>C
NM_001302554.2:c.784-14G>C	NP_001289483.1:n.784-14G>C