Canonical Allele Identifier: CA684410136

Gene: ACADS

Linked Data

• dbSNP Id: rs1484940821
• gnomAD v3: 12-120727015-C-T
• gnomAD v4: 12-120727015-C-T
• MyVariant Identifiers: chr12:g.121164818C>T (hg19) ; chr12:g.120727015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120727015C>T , CM000674.2:g.120727015C>T	GRCh38
NC_000012.11:g.121164818C>T , CM000674.1:g.121164818C>T	GRCh37
NC_000012.10:g.119649201C>T	NCBI36
NG_007991.1:g.6248C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242592.9:c.47-11C>T MANE Select	ENSP00000242592.4:n.47-11C>T
ENST00000242592.8:c.47-11C>T	ENSP00000242592.4:n.47-11C>T
ENST00000411593.2:c.47-11C>T	ENSP00000401045.2:n.47-11C>T
ENST00000539690.1:n.159-11C>T
NM_000017.3:c.47-11C>T	NP_000008.1:n.47-11C>T
NM_001302554.1:c.47-11C>T	NP_001289483.1:n.47-11C>T
NM_000017.4:c.47-11C>T MANE Select	NP_000008.1:n.47-11C>T
NM_001302554.2:c.47-11C>T	NP_001289483.1:n.47-11C>T