Canonical Allele Identifier: CA386614166

Gene: ACADS

Linked Data

• dbSNP Id: rs1346210681
• gnomAD v2: 12-121174907-C-T
• MyVariant Identifiers: chr12:g.121174907C>T (hg19) ; chr12:g.120737104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737104C>T , CM000674.2:g.120737104C>T	GRCh38
NC_000012.11:g.121174907C>T , CM000674.1:g.121174907C>T	GRCh37
NC_000012.10:g.119659290C>T	NCBI36
NG_007991.1:g.16337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.329C>T MANE Select	ENSP00000242592.4:p.Ala110Val
ENST00000242592.8:c.329C>T	ENSP00000242592.4:p.Ala110Val
ENST00000411593.2:c.329C>T	ENSP00000401045.2:p.Ala110Val
ENST00000539690.1:n.441C>T
NM_000017.3:c.329C>T	NP_000008.1:p.Ala110Val
NM_001302554.1:c.329C>T	NP_001289483.1:p.Ala110Val
NM_000017.4:c.329C>T MANE Select	NP_000008.1:p.Ala110Val
NM_001302554.2:c.329C>T	NP_001289483.1:p.Ala110Val