Canonical Allele Identifier: CA7720399
Gene: ACAN HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1042631

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88859008T>C , CM000677.2:g.88859008T>C GRCh38
NC_000015.9:g.89402239T>C , CM000677.1:g.89402239T>C GRCh37
NC_000015.8:g.87203243T>C NCBI36
NG_012794.1:g.60566T>C

Transcript Alleles

HGVS Amino-acid change
NM_001135.3:c.6423T>C VV NP_001126.3:p.Leu2141=
NM_013227.3:c.6423T>C VV NP_037359.3:p.Leu2141=
XM_006720419.1:c.6423T>C XP_006720482.1:p.Leu2141=
XM_011521313.1:c.6423T>C XP_011519615.1:p.Leu2141=
XM_011521314.1:c.6423T>C XP_011519616.1:p.Leu2141=
ENST00000352105.11:c.6423T>C ENSP00000341615.7:p.Leu2141=
ENST00000439576.6:c.6423T>C ENSP00000387356.2:p.Leu2141=
ENST00000559004.5:c.6423T>C ENSP00000453499.1:p.Leu2141=
ENST00000561243.5:n.6423T>C ENSP00000453342.1:p.Leu2141=
ENST00000617301.4:c.6366T>C ENSP00000484456.1:p.Leu2122=