Canonical Allele Identifier: CA6830822
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs759190266
ExAC: 12:121174890 G / T
gnomAD v2: 12-121174890-G-T
gnomAD v4: 12-120737087-G-T
MyVariant Identifiers: chr12:g.121174890G>T (hg19) chr12:g.120737087G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737087G>T , CM000674.2:g.120737087G>T GRCh38
NC_000012.11:g.121174890G>T , CM000674.1:g.121174890G>T GRCh37
NC_000012.10:g.119659273G>T NCBI36
NG_007991.1:g.16320G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.312G>T MANE Select ENSP00000242592.4:p.Glu104Asp
ENST00000242592.8:c.312G>T ENSP00000242592.4:p.Glu104Asp
ENST00000411593.2:c.312G>T ENSP00000401045.2:p.Glu104Asp
ENST00000539690.1:n.424G>T
NM_000017.3:c.312G>T NP_000008.1:p.Glu104Asp
NM_001302554.1:c.312G>T NP_001289483.1:p.Glu104Asp
NM_000017.4:c.312G>T MANE Select NP_000008.1:p.Glu104Asp
NM_001302554.2:c.312G>T NP_001289483.1:p.Glu104Asp
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