Canonical Allele Identifier: CA393721643
Gene: ACAN HGNC NCBI

Linked Data

dbSNP Id: rs201505307

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88856926G>T , CM000677.2:g.88856926G>T GRCh38
NC_000015.9:g.89400157G>T , CM000677.1:g.89400157G>T GRCh37
NC_000015.8:g.87201161G>T NCBI36
NG_012794.1:g.58484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439576.7:c.4341G>T ENSP00000387356.2:p.Glu1447Asp
ENST00000560601.4:c.4341G>T MANE Select ENSP00000453581.2:p.Glu1447Asp
ENST00000561243.7:c.4341G>T ENSP00000453342.3:p.Glu1447Asp
ENST00000352105.11:c.4341G>T ENSP00000341615.7:p.Glu1447Asp
ENST00000439576.6:c.4341G>T ENSP00000387356.2:p.Glu1447Asp
ENST00000559004.5:c.4341G>T ENSP00000453499.1:p.Glu1447Asp
ENST00000561243.5:c.4341G>T ENSP00000453342.1:p.Glu1447Asp
ENST00000617301.4:c.4284G>T ENSP00000484456.1:p.Glu1428Asp
NM_001135.3:c.4341G>T NP_001126.3:p.Glu1447Asp
NM_013227.3:c.4341G>T NP_037359.3:p.Glu1447Asp
XM_006720419.1:c.4341G>T XP_006720482.1:p.Glu1447Asp
XM_011521313.1:c.4341G>T XP_011519615.1:p.Glu1447Asp
XM_011521314.1:c.4341G>T XP_011519616.1:p.Glu1447Asp
NM_001369268.1:c.4341G>T MANE Select NP_001356197.1:p.Glu1447Asp
NM_001135.4:c.4341G>T NP_001126.3:p.Glu1447Asp
NM_013227.4:c.4341G>T NP_037359.3:p.Glu1447Asp