Canonical Allele Identifier: CA350418572
Gene: ACADL HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.211059960C>G (hg19) chr2:g.210195236C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195236C>G , CM000664.2:g.210195236C>G GRCh38
NC_000002.11:g.211059960C>G , CM000664.1:g.211059960C>G GRCh37
NC_000002.10:g.210768205C>G NCBI36
NG_008002.1:g.35256G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.1087G>C MANE Select ENSP00000233710.3:p.Ala363Pro
ENST00000652584.1:n.1315G>C
ENST00000233710.3:c.1087G>C ENSP00000233710.3:p.Ala363Pro
NM_001608.3:c.1087G>C NP_001599.1:p.Ala363Pro
XM_005246517.3:c.1024G>C XP_005246574.1:p.Ala342Pro
XM_005246517.4:c.1024G>C XP_005246574.1:p.Ala342Pro
XM_017003955.1:c.664G>C XP_016859444.1:p.Ala222Pro
NM_001608.4:c.1087G>C MANE Select NP_001599.1:p.Ala363Pro
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