Canonical Allele Identifier: CA2722875835
Gene: ACADSB HGNC NCBI

Linked Data

dbSNP Id: rs2133500938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123056954T>C , CM000672.2:g.123056954T>C GRCh38
NC_000010.10:g.124816470T>C , CM000672.1:g.124816470T>C GRCh37
NC_000010.9:g.124806460T>C NCBI36
NG_008003.1:g.53042T>C , LRG_451:g.53042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.*3189T>C MANE Select ENSP00000357873.3:n.*3189T>C
ENST00000358776.6:c.*3189T>C ENSP00000357873.3:n.*3189T>C
NM_001609.3:c.*3189T>C , LRG_451t1:c.*3189T>C NP_001600.1:n.*3189T>C
NM_001330174.1:c.*3189T>C NP_001317103.1:n.*3189T>C
NM_001330174.2:c.*3189T>C NP_001317103.1:n.*3189T>C
NM_001609.4:c.*3189T>C MANE Select NP_001600.1:n.*3189T>C
NM_001330174.3:c.*3189T>C NP_001317103.1:n.*3189T>C
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