Canonical Allele Identifier: CA2603332419
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs2136951498
gnomAD v3: 12-120739644-C-T
gnomAD v4: 12-120739644-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739644C>T , CM000674.2:g.120739644C>T GRCh38
NC_000012.11:g.121177447C>T , CM000674.1:g.121177447C>T GRCh37
NC_000012.10:g.119661830C>T NCBI36
NG_007991.1:g.18877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*196C>T MANE Select ENSP00000242592.4:n.*196C>T
ENST00000242592.8:c.*196C>T ENSP00000242592.4:n.*196C>T
NM_000017.3:c.*196C>T NP_000008.1:n.*196C>T
NM_001302554.1:c.*196C>T NP_001289483.1:n.*196C>T
NM_000017.4:c.*196C>T MANE Select NP_000008.1:n.*196C>T
NM_001302554.2:c.*196C>T NP_001289483.1:n.*196C>T
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