Canonical Allele Identifier: CA6831115
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs759485193
ExAC: 12:121176462 C / T
gnomAD v2: 12-121176462-C-T
gnomAD v4: 12-120738659-C-T
MyVariant Identifiers: chr12:g.121176462C>T (hg19) chr12:g.120738659C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738659C>T , CM000674.2:g.120738659C>T GRCh38
NC_000012.11:g.121176462C>T , CM000674.1:g.121176462C>T GRCh37
NC_000012.10:g.119660845C>T NCBI36
NG_007991.1:g.17892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.922C>T MANE Select ENSP00000242592.4:p.Gln308Ter
ENST00000242592.8:c.922C>T ENSP00000242592.4:p.Gln308Ter
ENST00000411593.2:c.910C>T ENSP00000401045.2:p.Gln304Ter
NM_000017.3:c.922C>T NP_000008.1:p.Gln308Ter
NM_001302554.1:c.910C>T NP_001289483.1:p.Gln304Ter
NM_000017.4:c.922C>T MANE Select NP_000008.1:p.Gln308Ter
NM_001302554.2:c.910C>T NP_001289483.1:p.Gln304Ter
Search 100 bp 5'
Search 100 bp 3'