Canonical Allele Identifier: CA596396336
Gene: ACADSB HGNC NCBI

Linked Data

dbSNP Id: rs1265324204
gnomAD v2: 10-124812552-T-C
gnomAD v3: 10-123053036-T-C
gnomAD v4: 10-123053036-T-C
MyVariant Identifiers: chr10:g.124812552T>C (hg19) chr10:g.123053036T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123053036T>C , CM000672.2:g.123053036T>C GRCh38
NC_000010.10:g.124812552T>C , CM000672.1:g.124812552T>C GRCh37
NC_000010.9:g.124802542T>C NCBI36
NG_008003.1:g.49124T>C , LRG_451:g.49124T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358776.7:c.1129-25T>C MANE Select ENSP00000357873.3:n.1129-25T>C
ENST00000358776.6:c.1129-25T>C ENSP00000357873.3:n.1129-25T>C
ENST00000368869.8:c.823-25T>C ENSP00000357862.4:n.823-25T>C
ENST00000541070.1:n.276T>C
NM_001609.3:c.1129-25T>C , LRG_451t1:c.1129-25T>C NP_001600.1:n.1129-25T>C
NM_001330174.1:c.823-25T>C NP_001317103.1:n.823-25T>C
NM_001330174.2:c.823-25T>C NP_001317103.1:n.823-25T>C
NM_001609.4:c.1129-25T>C MANE Select NP_001600.1:n.1129-25T>C
NM_001330174.3:c.823-25T>C NP_001317103.1:n.823-25T>C
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