Canonical Allele Identifier: CA7720374

Gene: ACAN

Linked Data

• dbSNP Id: rs767050244
• ExAC: 15:89402102 G / T
• gnomAD v2: 15-89402102-G-T
• gnomAD v3: 15-88858871-G-T
• gnomAD v4: 15-88858871-G-T
• MyVariant Identifiers: chr15:g.89402102G>T (hg19) ; chr15:g.88858871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858871G>T , CM000677.2:g.88858871G>T	GRCh38
NC_000015.9:g.89402102G>T , CM000677.1:g.89402102G>T	GRCh37
NC_000015.8:g.87203106G>T	NCBI36
NG_012794.1:g.60429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.6286G>T	ENSP00000387356.2:p.Val2096Phe
ENST00000560601.4:c.6286G>T MANE Select	ENSP00000453581.2:p.Val2096Phe
ENST00000561243.7:c.6286G>T	ENSP00000453342.3:p.Val2096Phe
ENST00000352105.11:c.6286G>T	ENSP00000341615.7:p.Val2096Phe
ENST00000439576.6:c.6286G>T	ENSP00000387356.2:p.Val2096Phe
ENST00000559004.5:c.6286G>T	ENSP00000453499.1:p.Val2096Phe
ENST00000561243.5:c.6286G>T	ENSP00000453342.1:p.Val2096Phe
ENST00000617301.4:c.6229G>T	ENSP00000484456.1:p.Val2077Phe
NM_001135.3:c.6286G>T	NP_001126.3:p.Val2096Phe
NM_013227.3:c.6286G>T	NP_037359.3:p.Val2096Phe
XM_006720419.1:c.6286G>T	XP_006720482.1:p.Val2096Phe
XM_011521313.1:c.6286G>T	XP_011519615.1:p.Val2096Phe
XM_011521314.1:c.6286G>T	XP_011519616.1:p.Val2096Phe
NM_001369268.1:c.6286G>T MANE Select	NP_001356197.1:p.Val2096Phe
NM_001135.4:c.6286G>T	NP_001126.3:p.Val2096Phe
NM_013227.4:c.6286G>T	NP_037359.3:p.Val2096Phe