Canonical Allele Identifier: CA244495103

Gene: ACADS

Linked Data

• dbSNP Id: rs970614348
• gnomAD v3: 12-120739082-G-C
• gnomAD v4: 12-120739082-G-C
• MyVariant Identifiers: chr12:g.120739082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739082G>C , CM000674.2:g.120739082G>C	GRCh38
NC_000012.11:g.121176885G>C , CM000674.1:g.121176885G>C	GRCh37
NC_000012.10:g.119661268G>C	NCBI36
NG_007991.1:g.18315G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000242592.9:c.1030-58G>C MANE Select	ENSP00000242592.4:n.1030-58G>C
ENST00000242592.8:c.1030-58G>C	ENSP00000242592.4:n.1030-58G>C
ENST00000411593.2:c.1018-58G>C	ENSP00000401045.2:n.1018-58G>C
NM_000017.3:c.1030-58G>C	NP_000008.1:n.1030-58G>C
NM_001302554.1:c.1018-58G>C	NP_001289483.1:n.1018-58G>C
NM_000017.4:c.1030-58G>C MANE Select	NP_000008.1:n.1030-58G>C
NM_001302554.2:c.1018-58G>C	NP_001289483.1:n.1018-58G>C