Canonical Allele Identifier: CA386601808

Gene: ACADS

Linked Data

• ClinVar Variation Id: 1996008
• ClinVar RCV Id: RCV002801731
• MyVariant Identifiers: chr12:g.121177124G>C (hg19) ; chr12:g.120739321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739321G>C , CM000674.2:g.120739321G>C	GRCh38
NC_000012.11:g.121177124G>C , CM000674.1:g.121177124G>C	GRCh37
NC_000012.10:g.119661507G>C	NCBI36
NG_007991.1:g.18554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1112G>C MANE Select	ENSP00000242592.4:p.Gly371Ala
ENST00000242592.8:c.1112G>C	ENSP00000242592.4:p.Gly371Ala
ENST00000411593.2:c.1100G>C	ENSP00000401045.2:p.Gly367Ala
NM_000017.3:c.1112G>C	NP_000008.1:p.Gly371Ala
NM_001302554.1:c.1100G>C	NP_001289483.1:p.Gly367Ala
NM_000017.4:c.1112G>C MANE Select	NP_000008.1:p.Gly371Ala
NM_001302554.2:c.1100G>C	NP_001289483.1:p.Gly367Ala