Canonical Allele Identifier: CA378622618
Gene: ACADSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124812575A>G (hg19) chr10:g.123053059A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053059A>G , CM000672.2:g.123053059A>G GRCh38
NC_000010.10:g.124812575A>G , CM000672.1:g.124812575A>G GRCh37
NC_000010.9:g.124802565A>G NCBI36
NG_008003.1:g.49147A>G , LRG_451:g.49147A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1129-2A>G MANE Select ENSP00000357873.3:n.1129-2A>G
ENST00000358776.6:c.1129-2A>G ENSP00000357873.3:n.1129-2A>G
ENST00000368869.8:c.823-2A>G ENSP00000357862.4:n.823-2A>G
ENST00000541070.1:n.299A>G
NM_001609.3:c.1129-2A>G , LRG_451t1:c.1129-2A>G NP_001600.1:n.1129-2A>G
NM_001330174.1:c.823-2A>G NP_001317103.1:n.823-2A>G
NM_001330174.2:c.823-2A>G NP_001317103.1:n.823-2A>G
NM_001609.4:c.1129-2A>G MANE Select NP_001600.1:n.1129-2A>G
NM_001330174.3:c.823-2A>G NP_001317103.1:n.823-2A>G
Search 100 bp 5'
Search 100 bp 3'