Canonical Allele Identifier: CA393727188
Gene: ACAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88858993C>G , CM000677.2:g.88858993C>G GRCh38
NC_000015.9:g.89402224C>G , CM000677.1:g.89402224C>G GRCh37
NC_000015.8:g.87203228C>G NCBI36
NG_012794.1:g.60551C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000439576.7:c.6408C>G ENSP00000387356.2:p.Phe2136Leu
ENST00000560601.4:c.6408C>G MANE Select ENSP00000453581.2:p.Phe2136Leu
ENST00000561243.7:c.6408C>G ENSP00000453342.3:p.Phe2136Leu
ENST00000352105.11:c.6408C>G ENSP00000341615.7:p.Phe2136Leu
ENST00000439576.6:c.6408C>G ENSP00000387356.2:p.Phe2136Leu
ENST00000559004.5:c.6408C>G ENSP00000453499.1:p.Phe2136Leu
ENST00000561243.5:c.6408C>G ENSP00000453342.1:p.Phe2136Leu
ENST00000617301.4:c.6351C>G ENSP00000484456.1:p.Phe2117Leu
NM_001135.3:c.6408C>G NP_001126.3:p.Phe2136Leu
NM_013227.3:c.6408C>G NP_037359.3:p.Phe2136Leu
XM_006720419.1:c.6408C>G XP_006720482.1:p.Phe2136Leu
XM_011521313.1:c.6408C>G XP_011519615.1:p.Phe2136Leu
XM_011521314.1:c.6408C>G XP_011519616.1:p.Phe2136Leu
NM_001369268.1:c.6408C>G MANE Select NP_001356197.1:p.Phe2136Leu
NM_001135.4:c.6408C>G NP_001126.3:p.Phe2136Leu
NM_013227.4:c.6408C>G NP_037359.3:p.Phe2136Leu