Canonical Allele Identifier: CA430997696

Gene: ACADL

Linked Data

• dbSNP Id: rs1688692371
• gnomAD v3: 2-210195330-T-C
• gnomAD v4: 2-210195330-T-C
• MyVariant Identifiers: chr2:g.211060054T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195330T>C , CM000664.2:g.210195330T>C	GRCh38
NC_000002.11:g.211060054T>C , CM000664.1:g.211060054T>C	GRCh37
NC_000002.10:g.210768299T>C	NCBI36
NG_008002.1:g.35162A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.993A>G MANE Select	ENSP00000233710.3:p.Gln331=
ENST00000652584.1:n.1221A>G
ENST00000233710.3:c.993A>G	ENSP00000233710.3:p.Gln331=
NM_001608.3:c.993A>G	NP_001599.1:p.Gln331=
XM_005246517.3:c.930A>G	XP_005246574.1:p.Gln310=
XM_005246517.4:c.930A>G	XP_005246574.1:p.Gln310=
XM_017003955.1:c.570A>G	XP_016859444.1:p.Gln190=
NM_001608.4:c.993A>G MANE Select	NP_001599.1:p.Gln331=