Canonical Allele Identifier: CA7720717

Gene: ACAN

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88873918C>T , CM000677.2:g.88873918C>T	GRCh38
NC_000015.9:g.89417149C>T , CM000677.1:g.89417149C>T	GRCh37
NC_000015.8:g.87218153C>T	NCBI36
NG_012794.1:g.75476C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369268.1:c.7524C>T MANE Select	NP_001356197.1:p.Ser2508=
ENST00000560601.4:c.7524C>T MANE Select	ENSP00000453581.2:p.Ser2508=
NM_001135.3:c.7220-487C>T	NP_001126.3:n.7220-487C>T
NM_001135.4:c.7220-487C>T	NP_001126.3:n.7220-487C>T
NM_013227.3:c.7410C>T	NP_037359.3:p.Ser2470=
NM_013227.4:c.7410C>T	NP_037359.3:p.Ser2470=
ENST00000352105.11:c.7220-487C>T	ENSP00000341615.7:n.7220-487C>T
ENST00000439576.6:c.7410C>T	ENSP00000387356.2:p.Ser2470=
ENST00000439576.7:c.7410C>T	ENSP00000387356.2:p.Ser2470=
ENST00000558604.1:n.206C>T
ENST00000558704.1:c.134C>T
ENST00000559004.5:c.7296C>T	ENSP00000453499.1:p.Ser2432=
ENST00000561243.5:c.7410C>T	ENSP00000453342.1:p.Ser2470=
ENST00000561243.7:c.7410C>T	ENSP00000453342.3:p.Ser2470=
ENST00000617301.4:c.7239C>T	ENSP00000484456.1:p.Ser2413=
XM_006720419.1:c.7524C>T	XP_006720482.1:p.Ser2508=
XM_011521313.1:c.7410C>T	XP_011519615.1:p.Ser2470=
XM_011521314.1:c.7296C>T	XP_011519616.1:p.Ser2432=