Canonical Allele Identifier: CA539121919

Gene: ACADL

Linked Data

• dbSNP Id: rs1346630480
• gnomAD v2: 2-211074820-G-C
• gnomAD v3: 2-210210096-G-C
• gnomAD v4: 2-210210096-G-C
• MyVariant Identifiers: chr2:g.211074820G>C (hg19) ; chr2:g.210210096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210210096G>C , CM000664.2:g.210210096G>C	GRCh38
NC_000002.11:g.211074820G>C , CM000664.1:g.211074820G>C	GRCh37
NC_000002.10:g.210783065G>C	NCBI36
NG_008002.1:g.20396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233710.4:c.603+100C>G MANE Select	ENSP00000233710.3:n.603+100C>G
ENST00000652584.1:n.831+100C>G
ENST00000233710.3:c.603+100C>G	ENSP00000233710.3:n.603+100C>G
ENST00000482502.1:n.540C>G
NM_001608.3:c.603+100C>G	NP_001599.1:n.603+100C>G
XM_005246517.3:c.540+100C>G	XP_005246574.1:n.540+100C>G
XM_005246517.4:c.540+100C>G	XP_005246574.1:n.540+100C>G
XM_017003955.1:c.180+100C>G	XP_016859444.1:n.180+100C>G
NM_001608.4:c.603+100C>G MANE Select	NP_001599.1:n.603+100C>G