Canonical Allele Identifier: CA952543924
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1883546130
gnomAD v3: 12-120738729-G-T
gnomAD v4: 12-120738729-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738729G>T , CM000674.2:g.120738729G>T GRCh38
NC_000012.11:g.121176532G>T , CM000674.1:g.121176532G>T GRCh37
NC_000012.10:g.119660915G>T NCBI36
NG_007991.1:g.17962G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.933+59G>T MANE Select ENSP00000242592.4:n.933+59G>T
ENST00000242592.8:c.933+59G>T ENSP00000242592.4:n.933+59G>T
ENST00000411593.2:c.921+59G>T ENSP00000401045.2:n.921+59G>T
NM_000017.3:c.933+59G>T NP_000008.1:n.933+59G>T
NM_001302554.1:c.921+59G>T NP_001289483.1:n.921+59G>T
NM_000017.4:c.933+59G>T MANE Select NP_000008.1:n.933+59G>T
NM_001302554.2:c.921+59G>T NP_001289483.1:n.921+59G>T
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