Canonical Allele Identifier: CA386601818
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121177129G>T (hg19) chr12:g.120739326G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739326G>T , CM000674.2:g.120739326G>T GRCh38
NC_000012.11:g.121177129G>T , CM000674.1:g.121177129G>T GRCh37
NC_000012.10:g.119661512G>T NCBI36
NG_007991.1:g.18559G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1117G>T MANE Select ENSP00000242592.4:p.Val373Leu
ENST00000242592.8:c.1117G>T ENSP00000242592.4:p.Val373Leu
ENST00000411593.2:c.1105G>T ENSP00000401045.2:p.Val369Leu
NM_000017.3:c.1117G>T NP_000008.1:p.Val373Leu
NM_001302554.1:c.1105G>T NP_001289483.1:p.Val369Leu
NM_000017.4:c.1117G>T MANE Select NP_000008.1:p.Val373Leu
NM_001302554.2:c.1105G>T NP_001289483.1:p.Val369Leu
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