Canonical Allele Identifier: CA6830945

Gene: ACADS

Linked Data

• ClinVar Variation Id: 307438
• ClinVar RCV Id: RCV000384415 ; RCV000440480
• dbSNP Id: rs371550264
• ExAC: 12:121175799 C / T
• gnomAD v2: 12-121175799-C-T
• gnomAD v3: 12-120737996-C-T
• gnomAD v4: 12-120737996-C-T
• MyVariant Identifiers: chr12:g.121175799C>T (hg19) ; chr12:g.120737996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737996C>T , CM000674.2:g.120737996C>T	GRCh38
NC_000012.11:g.121175799C>T , CM000674.1:g.121175799C>T	GRCh37
NC_000012.10:g.119660182C>T	NCBI36
NG_007991.1:g.17229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.624+8C>T MANE Select	ENSP00000242592.4:n.624+8C>T
ENST00000242592.8:c.624+8C>T	ENSP00000242592.4:n.624+8C>T
ENST00000411593.2:c.473-53C>T	ENSP00000401045.2:n.473-53C>T
NM_000017.3:c.624+8C>T	NP_000008.1:n.624+8C>T
NM_001302554.1:c.473-53C>T	NP_001289483.1:n.473-53C>T
NM_000017.4:c.624+8C>T MANE Select	NP_000008.1:n.624+8C>T
NM_001302554.2:c.473-53C>T	NP_001289483.1:n.473-53C>T