Canonical Allele Identifier: CA386602064

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739447-G-T
• MyVariant Identifiers: chr12:g.121177250G>T (hg19) ; chr12:g.120739447G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739447G>T , CM000674.2:g.120739447G>T	GRCh38
NC_000012.11:g.121177250G>T , CM000674.1:g.121177250G>T	GRCh37
NC_000012.10:g.119661633G>T	NCBI36
NG_007991.1:g.18680G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1238G>T MANE Select	ENSP00000242592.4:p.Ter413Leu
ENST00000242592.8:c.1238G>T	ENSP00000242592.4:p.Ter413Leu
ENST00000411593.2:c.1226G>T	ENSP00000401045.2:p.Ter409Leu
NM_000017.3:c.1238G>T	NP_000008.1:p.Ter413Leu
NM_001302554.1:c.1226G>T	NP_001289483.1:p.Ter409Leu
NM_000017.4:c.1238G>T MANE Select	NP_000008.1:p.Ter413Leu
NM_001302554.2:c.1226G>T	NP_001289483.1:p.Ter409Leu