Canonical Allele Identifier: CA393727271
Gene: ACAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88859033A>C , CM000677.2:g.88859033A>C GRCh38
NC_000015.9:g.89402264A>C , CM000677.1:g.89402264A>C GRCh37
NC_000015.8:g.87203268A>C NCBI36
NG_012794.1:g.60591A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439576.7:c.6448A>C ENSP00000387356.2:p.Ser2150Arg
ENST00000560601.4:c.6448A>C MANE Select ENSP00000453581.2:p.Ser2150Arg
ENST00000561243.7:c.6448A>C ENSP00000453342.3:p.Ser2150Arg
ENST00000352105.11:c.6448A>C ENSP00000341615.7:p.Ser2150Arg
ENST00000439576.6:c.6448A>C ENSP00000387356.2:p.Ser2150Arg
ENST00000559004.5:c.6448A>C ENSP00000453499.1:p.Ser2150Arg
ENST00000561243.5:c.6448A>C ENSP00000453342.1:p.Ser2150Arg
ENST00000617301.4:c.6391A>C ENSP00000484456.1:p.Ser2131Arg
NM_001135.3:c.6448A>C NP_001126.3:p.Ser2150Arg
NM_013227.3:c.6448A>C NP_037359.3:p.Ser2150Arg
XM_006720419.1:c.6448A>C XP_006720482.1:p.Ser2150Arg
XM_011521313.1:c.6448A>C XP_011519615.1:p.Ser2150Arg
XM_011521314.1:c.6448A>C XP_011519616.1:p.Ser2150Arg
NM_001369268.1:c.6448A>C MANE Select NP_001356197.1:p.Ser2150Arg
NM_001135.4:c.6448A>C NP_001126.3:p.Ser2150Arg
NM_013227.4:c.6448A>C NP_037359.3:p.Ser2150Arg