Canonical Allele Identifier: CA123855
Gene: ACAN HGNC NCBI

Linked Data

ClinVar Variation Id: 14305
ClinVar RCV Id: RCV000015375 RCV002247342 RCV002513062
dbSNP Id: rs121913568
MyVariant Identifiers: chr15:g.89415269G>A (hg19) chr15:g.88872038G>A (hg38)
PubMed: PMID:19110214
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88872038G>A , CM000677.2:g.88872038G>A GRCh38
NC_000015.9:g.89415269G>A , CM000677.1:g.89415269G>A GRCh37
NC_000015.8:g.87216273G>A NCBI36
NG_012794.1:g.73596G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000439576.7:c.7141G>A ENSP00000387356.2:p.Asp2381Asn
ENST00000560601.4:c.7255G>A MANE Select ENSP00000453581.2:p.Asp2419Asn
ENST00000561243.7:c.7141G>A ENSP00000453342.3:p.Asp2381Asn
ENST00000352105.11:c.7027G>A ENSP00000341615.7:p.Asp2343Asn
ENST00000439576.6:c.7141G>A ENSP00000387356.2:p.Asp2381Asn
ENST00000559004.5:c.7027G>A ENSP00000453499.1:p.Asp2343Asn
ENST00000561243.5:c.7141G>A ENSP00000453342.1:p.Asp2381Asn
ENST00000617301.4:c.6970G>A ENSP00000484456.1:p.Asp2324Asn
NM_001135.3:c.7027G>A NP_001126.3:p.Asp2343Asn
NM_013227.3:c.7141G>A NP_037359.3:p.Asp2381Asn
XM_006720419.1:c.7255G>A XP_006720482.1:p.Asp2419Asn
XM_011521313.1:c.7141G>A XP_011519615.1:p.Asp2381Asn
XM_011521314.1:c.7027G>A XP_011519616.1:p.Asp2343Asn
NM_001369268.1:c.7255G>A MANE Select NP_001356197.1:p.Asp2419Asn
NM_001135.4:c.7027G>A NP_001126.3:p.Asp2343Asn
NM_013227.4:c.7141G>A NP_037359.3:p.Asp2381Asn
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