Canonical Allele Identifier: CA492287811

Gene: ACAN

Linked Data

• dbSNP Id: rs1393983910
• gnomAD v2: 15-89402044-T-C
• gnomAD v4: 15-88858813-T-C
• MyVariant Identifiers: chr15:g.89402044T>C (hg19) ; chr15:g.88858813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858813T>C , CM000677.2:g.88858813T>C	GRCh38
NC_000015.9:g.89402044T>C , CM000677.1:g.89402044T>C	GRCh37
NC_000015.8:g.87203048T>C	NCBI36
NG_012794.1:g.60371T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439576.7:c.6228T>C	ENSP00000387356.2:p.Ala2076=
ENST00000560601.4:c.6228T>C MANE Select	ENSP00000453581.2:p.Ala2076=
ENST00000561243.7:c.6228T>C	ENSP00000453342.3:p.Ala2076=
ENST00000352105.11:c.6228T>C	ENSP00000341615.7:p.Ala2076=
ENST00000439576.6:c.6228T>C	ENSP00000387356.2:p.Ala2076=
ENST00000559004.5:c.6228T>C	ENSP00000453499.1:p.Ala2076=
ENST00000561243.5:c.6228T>C	ENSP00000453342.1:p.Ala2076=
ENST00000617301.4:c.6171T>C	ENSP00000484456.1:p.Ala2057=
NM_001135.3:c.6228T>C	NP_001126.3:p.Ala2076=
NM_013227.3:c.6228T>C	NP_037359.3:p.Ala2076=
XM_006720419.1:c.6228T>C	XP_006720482.1:p.Ala2076=
XM_011521313.1:c.6228T>C	XP_011519615.1:p.Ala2076=
XM_011521314.1:c.6228T>C	XP_011519616.1:p.Ala2076=
NM_001369268.1:c.6228T>C MANE Select	NP_001356197.1:p.Ala2076=
NM_001135.4:c.6228T>C	NP_001126.3:p.Ala2076=
NM_013227.4:c.6228T>C	NP_037359.3:p.Ala2076=