Canonical Allele Identifier: CA123858
Gene: ACAN HGNC NCBI

Linked Data

ClinVar Variation Id: 14306
ClinVar RCV Id: RCV001814958
dbSNP Id: rs267606625
MyVariant Identifiers: chr15:g.89416172G>A (hg19) chr15:g.88872941G>A (hg38)
PubMed: PMID:14216462 PMID:20137779 PMID:27870580
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88872941G>A , CM000677.2:g.88872941G>A GRCh38
NC_000015.9:g.89416172G>A , CM000677.1:g.89416172G>A GRCh37
NC_000015.8:g.87217176G>A NCBI36
NG_012794.1:g.74499G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000439576.7:c.7249G>A ENSP00000387356.2:p.Val2417Met
ENST00000560601.4:c.7363G>A MANE Select ENSP00000453581.2:p.Val2455Met
ENST00000561243.7:c.7249G>A ENSP00000453342.3:p.Val2417Met
ENST00000352105.11:c.7135G>A ENSP00000341615.7:p.Val2379Met
ENST00000439576.6:c.7249G>A ENSP00000387356.2:p.Val2417Met
ENST00000559004.5:c.7135G>A ENSP00000453499.1:p.Val2379Met
ENST00000561243.5:c.7249G>A ENSP00000453342.1:p.Val2417Met
ENST00000617301.4:c.7078G>A ENSP00000484456.1:p.Val2360Met
NM_001135.3:c.7135G>A NP_001126.3:p.Val2379Met
NM_013227.3:c.7249G>A NP_037359.3:p.Val2417Met
XM_006720419.1:c.7363G>A XP_006720482.1:p.Val2455Met
XM_011521313.1:c.7249G>A XP_011519615.1:p.Val2417Met
XM_011521314.1:c.7135G>A XP_011519616.1:p.Val2379Met
NM_001369268.1:c.7363G>A MANE Select NP_001356197.1:p.Val2455Met
NM_001135.4:c.7135G>A NP_001126.3:p.Val2379Met
NM_013227.4:c.7249G>A NP_037359.3:p.Val2417Met
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