Canonical Allele Identifier: CA16606080

Gene: ACADS

Linked Data

• ClinVar Variation Id: 393131
• ClinVar RCV Id: RCV000432974 ; RCV001244407
• dbSNP Id: rs1057524803
• gnomAD v3: 12-120737444-G-T
• gnomAD v4: 12-120737444-G-T
• MyVariant Identifiers: chr12:g.121175247G>T (hg19) ; chr12:g.120737444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737444G>T , CM000674.2:g.120737444G>T	GRCh38
NC_000012.11:g.121175247G>T , CM000674.1:g.121175247G>T	GRCh37
NC_000012.10:g.119659630G>T	NCBI36
NG_007991.1:g.16677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.449G>T MANE Select	ENSP00000242592.4:p.Gly150Val
ENST00000242592.8:c.449G>T	ENSP00000242592.4:p.Gly150Val
ENST00000411593.2:c.449G>T	ENSP00000401045.2:p.Gly150Val
ENST00000539690.1:n.781G>T
NM_000017.3:c.449G>T	NP_000008.1:p.Gly150Val
NM_001302554.1:c.449G>T	NP_001289483.1:p.Gly150Val
NM_000017.4:c.449G>T MANE Select	NP_000008.1:p.Gly150Val
NM_001302554.2:c.449G>T	NP_001289483.1:p.Gly150Val