Canonical Allele Identifier: CA6831174
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs570328023
ExAC: 12:121176756 G / C
gnomAD v2: 12-121176756-G-C
gnomAD v3: 12-120738953-G-C
gnomAD v4: 12-120738953-G-C
MyVariant Identifiers: chr12:g.121176756G>C (hg19) chr12:g.120738953G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738953G>C , CM000674.2:g.120738953G>C GRCh38
NC_000012.11:g.121176756G>C , CM000674.1:g.121176756G>C GRCh37
NC_000012.10:g.119661139G>C NCBI36
NG_007991.1:g.18186G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1029+38G>C MANE Select ENSP00000242592.4:n.1029+38G>C
ENST00000242592.8:c.1029+38G>C ENSP00000242592.4:n.1029+38G>C
ENST00000411593.2:c.1017+38G>C ENSP00000401045.2:n.1017+38G>C
NM_000017.3:c.1029+38G>C NP_000008.1:n.1029+38G>C
NM_001302554.1:c.1017+38G>C NP_001289483.1:n.1017+38G>C
NM_000017.4:c.1029+38G>C MANE Select NP_000008.1:n.1029+38G>C
NM_001302554.2:c.1017+38G>C NP_001289483.1:n.1017+38G>C
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