Canonical Allele Identifier: CA386613963
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121174808T>C (hg19) chr12:g.120737005T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737005T>C , CM000674.2:g.120737005T>C GRCh38
NC_000012.11:g.121174808T>C , CM000674.1:g.121174808T>C GRCh37
NC_000012.10:g.119659191T>C NCBI36
NG_007991.1:g.16238T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.230T>C MANE Select ENSP00000242592.4:p.Leu77Pro
ENST00000242592.8:c.230T>C ENSP00000242592.4:p.Leu77Pro
ENST00000411593.2:c.230T>C ENSP00000401045.2:p.Leu77Pro
ENST00000539690.1:n.342T>C
NM_000017.3:c.230T>C NP_000008.1:p.Leu77Pro
NM_001302554.1:c.230T>C NP_001289483.1:p.Leu77Pro
NM_000017.4:c.230T>C MANE Select NP_000008.1:p.Leu77Pro
NM_001302554.2:c.230T>C NP_001289483.1:p.Leu77Pro
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