Canonical Allele Identifier: CA2731426222

Gene: ACAN

Linked Data

• ClinVar Variation Id: 2968320
• ClinVar RCV Id: RCV003821446
• dbSNP Id: rs2141581537

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88845499C>T , CM000677.2:g.88845499C>T	GRCh38
NC_000015.9:g.89388730C>T , CM000677.1:g.89388730C>T	GRCh37
NC_000015.8:g.87189734C>T	NCBI36
NG_012794.1:g.47057C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439576.7:c.1052-6C>T	ENSP00000387356.2:n.1052-6C>T
ENST00000560601.4:c.1052-6C>T MANE Select	ENSP00000453581.2:n.1052-6C>T
ENST00000561243.7:c.1052-6C>T	ENSP00000453342.3:n.1052-6C>T
ENST00000352105.11:c.1052-6C>T	ENSP00000341615.7:n.1052-6C>T
ENST00000439576.6:c.1052-6C>T	ENSP00000387356.2:n.1052-6C>T
ENST00000558207.5:c.1052-6C>T	ENSP00000453003.1:n.1052-6C>T
ENST00000559004.5:c.1052-6C>T	ENSP00000453499.1:n.1052-6C>T
ENST00000561243.5:c.1052-6C>T	ENSP00000453342.1:n.1052-6C>T
ENST00000617301.4:c.1052-6C>T	ENSP00000484456.1:n.1052-6C>T
NM_001135.3:c.1052-6C>T	NP_001126.3:n.1052-6C>T
NM_013227.3:c.1052-6C>T	NP_037359.3:n.1052-6C>T
XM_006720419.1:c.1052-6C>T	XP_006720482.1:n.1052-6C>T
XM_011521313.1:c.1052-6C>T	XP_011519615.1:n.1052-6C>T
XM_011521314.1:c.1052-6C>T	XP_011519616.1:n.1052-6C>T
NM_001369268.1:c.1052-6C>T MANE Select	NP_001356197.1:n.1052-6C>T
NM_001135.4:c.1052-6C>T	NP_001126.3:n.1052-6C>T
NM_013227.4:c.1052-6C>T	NP_037359.3:n.1052-6C>T