Canonical Allele Identifier: CA393727184
Gene: ACAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88858992T>A , CM000677.2:g.88858992T>A GRCh38
NC_000015.9:g.89402223T>A , CM000677.1:g.89402223T>A GRCh37
NC_000015.8:g.87203227T>A NCBI36
NG_012794.1:g.60550T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000439576.7:c.6407T>A ENSP00000387356.2:p.Phe2136Tyr
ENST00000560601.4:c.6407T>A MANE Select ENSP00000453581.2:p.Phe2136Tyr
ENST00000561243.7:c.6407T>A ENSP00000453342.3:p.Phe2136Tyr
ENST00000352105.11:c.6407T>A ENSP00000341615.7:p.Phe2136Tyr
ENST00000439576.6:c.6407T>A ENSP00000387356.2:p.Phe2136Tyr
ENST00000559004.5:c.6407T>A ENSP00000453499.1:p.Phe2136Tyr
ENST00000561243.5:c.6407T>A ENSP00000453342.1:p.Phe2136Tyr
ENST00000617301.4:c.6350T>A ENSP00000484456.1:p.Phe2117Tyr
NM_001135.3:c.6407T>A NP_001126.3:p.Phe2136Tyr
NM_013227.3:c.6407T>A NP_037359.3:p.Phe2136Tyr
XM_006720419.1:c.6407T>A XP_006720482.1:p.Phe2136Tyr
XM_011521313.1:c.6407T>A XP_011519615.1:p.Phe2136Tyr
XM_011521314.1:c.6407T>A XP_011519616.1:p.Phe2136Tyr
NM_001369268.1:c.6407T>A MANE Select NP_001356197.1:p.Phe2136Tyr
NM_001135.4:c.6407T>A NP_001126.3:p.Phe2136Tyr
NM_013227.4:c.6407T>A NP_037359.3:p.Phe2136Tyr