Canonical Allele Identifier: CA2621369941
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739078-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739078G>C , CM000674.2:g.120739078G>C GRCh38
NC_000012.11:g.121176881G>C , CM000674.1:g.121176881G>C GRCh37
NC_000012.10:g.119661264G>C NCBI36
NG_007991.1:g.18311G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1030-62G>C MANE Select ENSP00000242592.4:n.1030-62G>C
ENST00000242592.8:c.1030-62G>C ENSP00000242592.4:n.1030-62G>C
ENST00000411593.2:c.1018-62G>C ENSP00000401045.2:n.1018-62G>C
NM_000017.3:c.1030-62G>C NP_000008.1:n.1030-62G>C
NM_001302554.1:c.1018-62G>C NP_001289483.1:n.1018-62G>C
NM_000017.4:c.1030-62G>C MANE Select NP_000008.1:n.1030-62G>C
NM_001302554.2:c.1018-62G>C NP_001289483.1:n.1018-62G>C
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