Canonical Allele Identifier: CA350419237
Gene: ACADL HGNC NCBI

Linked Data

gnomAD v4: 2-210195334-A-G
MyVariant Identifiers: chr2:g.211060058A>G (hg19) chr2:g.210195334A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195334A>G , CM000664.2:g.210195334A>G GRCh38
NC_000002.11:g.211060058A>G , CM000664.1:g.211060058A>G GRCh37
NC_000002.10:g.210768303A>G NCBI36
NG_008002.1:g.35158T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.989T>C MANE Select ENSP00000233710.3:p.Val330Ala
ENST00000652584.1:n.1217T>C
ENST00000233710.3:c.989T>C ENSP00000233710.3:p.Val330Ala
NM_001608.3:c.989T>C NP_001599.1:p.Val330Ala
XM_005246517.3:c.926T>C XP_005246574.1:p.Val309Ala
XM_005246517.4:c.926T>C XP_005246574.1:p.Val309Ala
XM_017003955.1:c.566T>C XP_016859444.1:p.Val189Ala
NM_001608.4:c.989T>C MANE Select NP_001599.1:p.Val330Ala
Search 100 bp 5'
Search 100 bp 3'