Canonical Allele Identifier: CA952543930

Gene: ACADS

Linked Data

• dbSNP Id: rs1883546715
• gnomAD v3: 12-120738745-C-T
• gnomAD v4: 12-120738745-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738745C>T , CM000674.2:g.120738745C>T	GRCh38
NC_000012.11:g.121176548C>T , CM000674.1:g.121176548C>T	GRCh37
NC_000012.10:g.119660931C>T	NCBI36
NG_007991.1:g.17978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.934-75C>T MANE Select	ENSP00000242592.4:n.934-75C>T
ENST00000242592.8:c.934-75C>T	ENSP00000242592.4:n.934-75C>T
ENST00000411593.2:c.922-75C>T	ENSP00000401045.2:n.922-75C>T
NM_000017.3:c.934-75C>T	NP_000008.1:n.934-75C>T
NM_001302554.1:c.922-75C>T	NP_001289483.1:n.922-75C>T
NM_000017.4:c.934-75C>T MANE Select	NP_000008.1:n.934-75C>T
NM_001302554.2:c.922-75C>T	NP_001289483.1:n.922-75C>T