Canonical Allele Identifier: CA393726334

Gene: ACAN

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858634G>T , CM000677.2:g.88858634G>T	GRCh38
NC_000015.9:g.89401865G>T , CM000677.1:g.89401865G>T	GRCh37
NC_000015.8:g.87202869G>T	NCBI36
NG_012794.1:g.60192G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369268.1:c.6049G>T MANE Select	NP_001356197.1:p.Glu2017Ter
ENST00000560601.4:c.6049G>T MANE Select	ENSP00000453581.2:p.Glu2017Ter
NM_001135.3:c.6049G>T	NP_001126.3:p.Glu2017Ter
NM_001135.4:c.6049G>T	NP_001126.3:p.Glu2017Ter
NM_013227.3:c.6049G>T	NP_037359.3:p.Glu2017Ter
NM_013227.4:c.6049G>T	NP_037359.3:p.Glu2017Ter
ENST00000352105.11:c.6049G>T	ENSP00000341615.7:p.Glu2017Ter
ENST00000439576.6:c.6049G>T	ENSP00000387356.2:p.Glu2017Ter
ENST00000439576.7:c.6049G>T	ENSP00000387356.2:p.Glu2017Ter
ENST00000559004.5:c.6049G>T	ENSP00000453499.1:p.Glu2017Ter
ENST00000561243.5:c.6049G>T	ENSP00000453342.1:p.Glu2017Ter
ENST00000561243.7:c.6049G>T	ENSP00000453342.3:p.Glu2017Ter
ENST00000617301.4:c.5992G>T	ENSP00000484456.1:p.Glu1998Ter
XM_006720419.1:c.6049G>T	XP_006720482.1:p.Glu2017Ter
XM_011521313.1:c.6049G>T	XP_011519615.1:p.Glu2017Ter
XM_011521314.1:c.6049G>T	XP_011519616.1:p.Glu2017Ter