Canonical Allele Identifier: CA244521817

Gene: ACADS

Linked Data

• dbSNP Id: rs369198779
• gnomAD v2: 12-121175032-T-C
• gnomAD v3: 12-120737229-T-C
• gnomAD v4: 12-120737229-T-C
• MyVariant Identifiers: chr12:g.121175032T>C (hg19) ; chr12:g.120737229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737229T>C , CM000674.2:g.120737229T>C	GRCh38
NC_000012.11:g.121175032T>C , CM000674.1:g.121175032T>C	GRCh37
NC_000012.10:g.119659415T>C	NCBI36
NG_007991.1:g.16462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.360+94T>C MANE Select	ENSP00000242592.4:n.360+94T>C
ENST00000242592.8:c.360+94T>C	ENSP00000242592.4:n.360+94T>C
ENST00000411593.2:c.360+94T>C	ENSP00000401045.2:n.360+94T>C
ENST00000539690.1:n.566T>C
NM_000017.3:c.360+94T>C	NP_000008.1:n.360+94T>C
NM_001302554.1:c.360+94T>C	NP_001289483.1:n.360+94T>C
NM_000017.4:c.360+94T>C MANE Select	NP_000008.1:n.360+94T>C
NM_001302554.2:c.360+94T>C	NP_001289483.1:n.360+94T>C